Diko : en:4-hydroxycyclohexylacetic aciduria (adults)

en:4-hydroxycyclohexylacetic aciduria (adults)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1841665

Associations d'idées

[F]

›

1000

en:rare occurrences of 9+0 or 8+1 cilia

•

en:normal platelet aggregation response to arachidonic acid (aa)

•

en:mild hyperammonemia

•

en:borderline elevated low-density lipoprotein

•

en:decreased activity of mitochondrial complex i

•

en:decreased agt activity

•

en:decreased neopterin and biopterin in urine

•

en:hepatic glycine cleavage defect

•

en:increased serum acyl carnitines

•

en:increased serum iduronate sulfatase (10-20x)

•

en:increased serum uric acid

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:increased very-long chain fatty acids

•

en:organic aciduria, mild (in some patients)

•

en:elevated plasma levels of lp(a)

•

en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks

•

en:hypercalciuria (in childhood)

•

en:presence of vacuoles on muscle biopsy

•

en:elevated sweat chloride (some)

•

en:exercise-induced myoglobinuria

•

en:decreased activity of phosphoglycerate kinase 1

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:urine occasionally port-wine in color secondary to porphobilinogen

•

en:serum folate normal

•

en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:decreased activity of cytochrome c oxidase in muscle and fibroblasts

•

en:decreased activity of dihydrofolate reductase

•

en:decreased tetrasialo-transferrin

•

en:elevated hdl (2-6x normal) in homozygotes

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:normal transferrin saturation

•

en:decreased activity of tyrosine hydroxylase

•

en:serum osmolality decreased

•

en:increased urinary sialylglycopeptides

•

en:normal complex ii activity

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)

•

en:pyruvic acidemia

•

en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes

•

en:decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v

•

en:decreased serum complement factor h

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:high serum osmolality

•

en:increased serum ferritin

•

en:increased urinary homovanillic acid (hva)

•

en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)

•

en:low urinary cyclic amp response to pth administration

•

en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues

•

en:type iii collagen defect

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus

•

en:decreased plasma total cholesterol

•

en:elevated gamma-glutamyltransferase

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:increased serum lipoproteins

•

en:low serum levels of ketone bodies

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:deficiency or absence of p91-phox (300481) protein

•

en:hypermagnesemia

•

en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally

•

en:elevated mchc

•

en:normal or mildly increased serum creatine kinase

•

en:decreased natural killer cells

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased activity of nadph oxidase

•

en:cerebrospinal fluid lymphocytosis

•

en:abetalipoproteinemia (lab finding)

•

en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

•

en:2-aminoadipic aciduria

•

en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:low plasma free and total carnitine

•

en:increased serum thyrotropin

•

en:partial deficiency of factor xii(c)

•

en:hypercalcemia

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:elevated serum transaminase levels

•

en:decreased nk cells (in some patients)

•

en:a small minority of patients have translocations and inversions involving 16p13.3

•

en:oestradiol decreased

•

en:decreased or absent apolipoprotein a-i

•

en:elevated plasma insulin

•

en:increased pristanic acid

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased urinary carnitine

•

en:increased urinary excretion of gamma-aminobutyric acid (gaba)

•

en:microscopic hematuria

•

en:mild hypertriglyceridemia

•

en:myoglobinuria

•

en:thrombocytopenia

•

en:abnormal n-glycosylation of transferrin

•

en:hypogammaglobulinemia, profound

•

en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine

•

en:severe amyloid angiopathy

•

en:premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase

•

en:increased serum ferritin (in some patients)

•

en:xanthine nephrolithiasis

•

en:glutathione deficiency

•

en:decreased serum cobalamin

•

en:decreased phytanic acid oxidase activity

•

en:decreased adiponectin

•

en:excessive iodide trapping

•

en:increased csf lactate during acute episodes

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:lactate dehydrogenase increased

•

en:increased serum, urinary, and csf saccharopine (in some patients)

•

en:increased plasma levels of bile acid intermediates

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:elevated 7-dehydrocholesterol

•

en:decreased plasminogen activity

•

en:decreased cobalamin in liver, kidney, and cultured fibroblasts

•

en:decreased acid beta galactosidase protein and activity

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:absent ch50 activity in complete c4 deficiency

•

en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts

•

en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)

•

en:metachromasia of white blood cells and fibroblasts

•

en:ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish

•

en:no evidence of common prenatal infections

•

en:elevated csf/plasma glycine ratio

•

en:mild elevation of triglycerides

•

en:normal serum cobalamin (vitamin b12)

•

en:increased urinary neopterin

•

en:increased serum manganese

•

en:increased plasma proinsulin

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:hair bulb tyrosinase present

•

en:extremely low creatine excretion

•

en:decreased carnitine in serum, muscle, heart, and liver

•

en:aminoaciduria (1 patient)

•

en:decreased activity of ppt1

•

en:myoglobinuria (reported in 1 patient)

•

en:normal urinary orotic acid

•

en:predominance of the d-stereoisomer

•

en:chromosomal rearrangement

•

en:defective (ca2+) mobilization in t cells

•

en:decreased hdl cholesterol

•

en:hypoxia

•

en:increased serum 18-hydroxycorticosterone (18-ohb)

•

en:increased serum creatine kinase (1 family)

•

en:low ldl cholesterol

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:neonatal hyperbilirubinemia

•

en:normal eosinophil peroxidase activity

•

en:no mucopolysacchariduria

•

en:increased serum fgf23

•

en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver

•

en:normal to prolonged bleeding time

•

en:normal g(s)-alpha levels (139320)

•

en:abnormal liver function tests (in some patients)

•

en:hematuria

•

en:enzyme replacement therapy has not been effective

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

•

en:severe hypernatremia in neonatal period

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:abnormal transaminases (1 patient)

•

en:transient eosinophilia in first decade

•

en:increased 11-deoxycortisol

•

en:urinary prostaglandin e

•

en:normal serum parathyroid hormone (pth)

•

en:low serum calcium

•

en:increased serum methionine (reported in 2 cases)

•

en:proteinuria in those with cystic kidneys

•

en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities

•

en:decreased red cell pyruvate kinase activity

•

en:decreased or normal plasma insulin

•

en:decreased or increased serum testosterone

•

en:decreased urinary excretion of uromodulin

•

en:increased urinary dopamine

•

en:increased serum triiodothyronine (t3)

•

en:increased total and conjugated bilirubin

•

en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

•

en:intermittent increase of urinary ethylmalonic acid

•

en:isovalerylglycinuria

•

en:low csf creatinine

•

en:low maximal oxygen uptake on exercise testing

•

en:increased serum lactate (patient a)

•

en:low or normal serum igm

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased plasma pristanic acid

•

en:increased chromosomal breakage

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum bile acid concentration during pregnancy, resolves postpartum

•

en:increased serum alpha-mannosidase

•

en:increased plasma renin activity

•

en:increased plasma phytanic acid

•

en:increased plasma free cholesterol

•

en:increased il18

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased free erythrocyte protoporphyrin

•

en:increased fibroblast free sialic acid

•

en:increased csf immunoglobulin levels

•

en:low to absent high density lipoprotein (hdl) (detroit 107680.0011)

•

en:low serum anti-mullerian hormone (amh) levels

•

en:platelet aggregation decreased

•

en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1

•

en:positive kveim-siltzbach skin test

•

en:some cilia show central complex and radial spoke defects

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum prolactin decreased

•

en:serum creatine kinase may be normal or elevated

•

en:serum bicarbonate increased

•

en:routine liver function tests normal

•

en:rhabdomyolysis in response to alcohol

•

en:respiratory cilia and sperm flagella show reduced coordination of beating activity

•

en:reduced total and free carnitine in plasma and tissue

•

en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase)

•

en:presence of pc mrna

•

en:premature chromosome condensation

•

en:increased bile acid intermediates (dhca and thca)

•

en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

•

en:pentagastrin stimulation test

•

en:parathyroid hormone-related peptide (pthrp) absent to low

•

en:no elevation of free fatty acids

•

en:normal total urinary coproporphyrin

•

en:normal prolyl 4-hydroxylase activity

•

en:normal blood lactate

•

en:neutral hyperaminoaciduria

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:mitochondria dna deletion

•

en:methylsuccinic aciduria

•

en:median mean platelet volume (mpv) 20fl

•

en:may have increased serum parathyroid hormone (pth)

•

en:increased c10:2-carnitine

•

en:glycosuria

•

en:inappropriately normal or increased plasma hepcidin

•

en:cilia may also be static, with slow activity

•

en:decreased serum iron (in some patients)

•

en:decreased serum cholesterol (in some)

•

en:decreased pyruvate carboxylase (pc) activity (less than 5%)

•

en:decreased plasma esterified cholesterol

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased levels of the e2 subunit protein

•

en:decreased levels of cpt2 protein

•

en:decreased fumarate hydratase activity

•

en:decreased factor xi

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:chronic hypoxemia

•

en:decreased serum thyroxine (t4)

•

en:chromosome deletion extending from 8q24.11 to 8q24.13

•

en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:a subset of group b patients have absence of pc protein and mrna

•

en:antiphospholipid antibody

•

en:androgens increased

•

en:alanine aminotransferase increased

•

en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

•

en:absent anti-insulin receptor antibodies

•

en:abnormal myelination in sural nerve biopsies

•

en:4-hydroxyphenylactic aciduria

•

en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood

•

en:tsh decreased

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased urocanic acid in blood, urine, and skin cells

•

en:inappropriately increased urine osmolality

•

en:hematuria, macroscopic and microscopic

•

en:immediate (type i) skin test reactivity

•

en:igg, elevated

•

en:hypophosphatemia (less common)

•

en:hyperprostaglandinuria

•

en:hyperphosphatemia, transient

•

en:hypermethioninemia, progressive

•

en:hyperglycinemia

•

en:hyperchloremia (mean 111 mm)

•

en:high urinary copper

•

en:high serum guanosine levels

•

en:high ft3/ft4 ratio

•

en:hemizygous deletion at 4p16.3

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:defective dna repair

•

en:glycogen accumulation in both liver and muscle

•

en:fluorescence of red blood cells by uv microscopy

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated pregnenolone

•

en:elevated plasma ammonia

•

en:elevated liver function tests

•

en:elevated ferritin l subunit

•

en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)

•

en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)

•

en:elevated 3-hydroxypropionic acid

•

en:dyskinetic ciliary motility

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

en:deficiency of serum properdin p factor

•

en:thyroid dyshormonogenesis 4

•

en:decreased or absent steroid sulfatase activity

•

en:undetectable norepinephrine (noradrenaline) in plasma, urine, csf

•

en:lack of ciliary motility

•

en:microduplication of chromosome 5p13

•

en:microdeletion 22q11.2

•

en:methylglutaconic aciduria, mild

•

en:methemoglobin concentration 12 to 19%

•

en:median mean platelet volume 13fl

•

en:markedly reduced igg levels

•

en:markedly increased serum creatine kinase

•

en:low to absent apo a-i (detroit 107680.0011)

•

en:low serum igg and iga

•

en:low free carnitine

•

en:liver function tests normal

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:ketonuria

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:iron binding capacity total increased

•

en:increased urinary malic acid

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased serum triglycerides (in some patients)

•

en:increased serum serotonin in 25%

•

en:increased serum ige

•

en:increased serum creatine kinase (patient a)

•

en:increased osmotic fragility

•

en:increased il-8

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased gamma-interferon

•

en:increased csf lactate

•

en:increased creatine kinase (ck)

•

en:mildly elevated hdl in heterozygotes

•

en:myoglobinuria with extreme exertion

•

en:increased cellular sensitivity to uv light

•

en:serum cholesterol raised

•

en:variably increased serum creatine kinase

•

en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis

•

en:variable respiratory chain enzyme deficiency

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:tryptophanuria

•

en:thyroid dyshormonogenesis 3

•

en:skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v

•

en:serum transferrin glycosylation is normal

•

en:serum iron normal

•

en:serum folate low

•

en:serum calcium elevated

•

en:normal-to-slightly decreased glcnac phosphotransferase using artificial substrate (e.g., alpha-methylmannoside)

•

en:serum and csf lactate may be increased

•

en:respiratory epithelial show lack of ciliary movement or abnormal movement

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:rapid high rai (radioactive iodine) uptake and turnover

•

en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients

•

en:platelet factor 4 decreased

•

en:platelet antibody positive

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340)

•

en:normal lysl hydroxylase activity

•

en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation

•

en:normal free urinary cortisol

•

en:increased coproporphyrin isomer iii:i ratio (hcp, feces)

•

en:mildly elevated acth

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:blood urea nitrogen increased

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum ceruloplasmin

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased plasma free carnitine

•

en:decreased or absent ciliary motility

•

en:decreased grhpr activity

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)

•

en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)

•

en:at least 2 complementation groups

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:antiribonuclear protein positive

•

en:antineutrophil cytoplasmic antibody

•

en:albuminuria

•

en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts

•

en:absent tyrosinase activity

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal schilling test (not normalized by addition of intrinsic factor)

•

en:abnormal nuclear morphology

•

en:abnormal cardiolipin subspecies composition

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:inappropriately low urine osmolality

•

en:3-methylglutaconic aciduria

•

en:urinary excretion of mucopolysaccharides

•

en:decreased serum factor i (atypical hus)

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:defect in mitochondrial and peroxisomal fission

•

en:granular osmiophilic deposits (grod) in cells

•

en:impaired o-glycosylation

•

en:impaired creatine uptake in fibroblasts

•

en:hyponatremic dehydration, rarely

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypertryptophanemia

•

en:hypertriglyceridemia (in some patients)

•

en:hyperthreoninemia

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperkalemia

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:high sister chromatid exchange (sce) rate

•

en:hepatic argininosuccinate synthetase deficiency

•

en:heparin cofactor ii deficiency (disorder)

•

en:homozygous 122kb deletion 11p15-p14

•

en:fasting chylomicronemia

•

en:elevated plasma campesterol

•

en:deletion of chromosome 18p11.2

•

en:detection by rt-pcr and southern blot analysis for primary diagnosis and follow up for residual disease

•

en:ethylmalonic aciduria

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated dihydrobiopterin in csf

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma methionine (methioninemia)

•

en:elevated serum iron and iron binding capacity

•

en:elevated serum phosphate in heterozygotes

•

en:deficiency or absence of p22-phox protein

•

en:elevated urinary pge(2) levels

•

en:low or absent thyrotropin (tsh)

•

en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs

•

en:low or absent growth hormone (gh)

•

en:low serum magnesium

•

en:marked elevation of erythrocyte sedimentation rate

•

en:mitochondrial deletions

•

en:methylmalonic aciduria, mild

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:mild elevation of transaminases

•

en:normal csf 5-hydroxyindoleacetic acid (5-hiaa)

•

en:low cd4+ count

•

en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

•

en:low copper and ceruloplasmin

•

en:increased serum s-adenosylmethionine

•

en:low-to-normal csf lactate

•

en:low-normal igm

•

en:lack of excessive parenchymal iron storage

•

en:keratan sulfaturia in some patients

•

en:indirect bilirubin increased

•

en:increased urine porphyrins at times

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary prostaglandin e2

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased serum c26-bile-acid intermediates

•

en:normal maltase, isomaltase, and sucrase activity

•

en:increased serum cholesterol (in 3 of 10 patients)

•

en:normal iga levels

•

en:thymic hormone decreased

•

en:normal or increased serum phytanic acid

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:increased plasma proglucagon

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:thyroid hormones increased

•

en:tay-sachs disease

•

en:t-lymphocytopenia

•

en:sialylation defects

•

en:shortened metaphase

•

en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)

•

en:serum iron low (finding)

•

en:serum ferritin normal

•

en:serum creatine kinase may be increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:serum acid phosphatase normal

•

en:reduced platelet aggregation response to adp, collagen, epinephrine

•

en:normal or mildly reduced serum cobalamin

•

en:reduced ferrochelatase activity

•

en:reduced erythrocyte adenosine deaminase activity

•

en:proteinuria (type ii, congenital)

•

en:poor mitogenic response to growth factors

•

en:plasma aldosterone normal

•

en:partial deficiency of factor xi (less common)

•

en:partial deficiency of factor xi(c)

•

en:orotic aciduria

•

en:no ketosis

•

en:no hyperphenylalaninemia

•

en:no cartilage staining with toluidine blue

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal sedimentation rate

•

en:increased serum arylsulfatase a.

•

en:antithrombin iii decreased

•

en:increased plasma and urinary pipecolic acid

•

en:decreased or low-normal serum parathyroid hormone (pth)

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms

•

en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

•

en:dehydroepiandrosterone (dhea) at upper level of normal range

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:decreased switched memory b cells

•

en:decreased sulfite oxidase activity

•

en:decreased serum vitamin a

•

en:decreased serum leptin

•

en:decreased serum free thyroxine

•

en:decreased scad activity

•

en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)

•

en:decreased renal calcium excretion

•

en:decreased plasma triglycerides

•

en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid

•

en:elevated circulating parathyroid hormone (pth) level

•

en:decreased methionine synthase activity

•

en:decreased glycerol kinase activity

•

en:decreased formation of complex (tri-, tetra-antennary) n-glycans

•

en:decreased csf serine

•

en:decreased csf 5-hydroxyindoleacetic acid (5hiaa)

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:calciuria

•

en:blood pyruvic acid increased

•

en:atrial abnormalities on electrocardiogram

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal liver enzymes in those with hepatic cysts or fibrosis

•

en:3-methylglutaric aciduria (3-mga)

•

en:urinary excretion of sialylated oligosaccharides

•

en:elevated calcitonin

•

en:elevated hcg (choriocarcinoma)

•

en:increased nasal-potential difference (some)

•

en:hepatic ornithine transcarbamylase deficiency

•

en:increased long-chain acylcarnitine

•

en:increased il-6

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:inclusion bodies (membrane-bound vacuoles) in fibroblasts

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:immunoglobulin a decreased

•

en:hypogammaglobulinemia (in some patients)

•

en:hypobetalipoproteinemias

•

en:hyperoxalaemia

•

en:hyperchloremia (mean >110 mm in both dominant and recessive)

•

en:hypercalciuria

•

en:hydroxyprolinuria

•

en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

•

en:elevated long-chain acylcarnitine species (in some patients)

•

en:glomerular filtration rate decreased

•

en:galactosemia

•

en:foam cells in bone marrow and renal glomeruli

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

•

en:excessive urinary 5-oxo-l-proline

•

en:euvolemia

•

en:erythroid colony-forming units show spontaneous growth in the absence of epo

•

en:eosinophilia, mild

•

en:elevated serum transferrin saturation

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:tyrosinemia (transient, resolves in infancy)

•

en:fumarase deficiency

•

en:very low igm

•

en:increased urinary s-sulfocysteine

•

en:normal serum creatine kinase

•

en:normal or mildly increased thyroid-stimulating hormone (tsh)

•

en:normal or increased urinary cyclic amp response to pth administration

•

en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)

•

en:mitochondrial complex i deficiency in muscle

•

en:mild to moderate hyperammonemia

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:lysyl hydroxylase deficiency

•

en:low serum acth

•

en:low plasma arginine

•

en:low-to-normal platelet count

•

en:interstitial or terminal deletion of 18q

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary organic acids (in some patients)

•

en:normal to mildly increased serum parathyroid hormone (pth)

•

en:increased urinary disaccharides (mannosyl-n-acetylglucosamine)

•

en:increased urinary, plasma, and csf l-2-hydroxyglutaric acid

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased transferrin saturation (>60%)

•

en:increased sodium-potassium pump activity

•

en:increased serum lactate (mild)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum gm-csf

•

en:increased serum beta-hexosaminidase

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased igm level

•

en:increased fractional excretion of urate (greater than 50%)

•

en:normal to increased plasma glycine

•

en:no ketonuria

•

en:increased csf interferon

•

en:serum phosphate concentration below normal

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:very low igg

•

en:very low density lipoprotein increased

•

en:urine uric acid decreased

•

en:tyrosine iodination defect

•

en:type 1 collagen overmodification

•

en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition

•

en:translocation of chromosomes 9 and 13

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33

•

en:slightly increased serum alkaline phosphatase may occur

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum prolactin increased

•

en:serum cholesterol low or normal

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:serum carnitine deficiency

•

en:serum acylcarnitine returns to borderline high or normal after resolution of fever

•

en:saposin a deficiency (finding)

•

en:rheumatoid factor negative

•

en:pyruvate-induced insulin secretion

•

en:premature separation of centromeric heterochromatin

•

en:pregnant mothers of affected children have decreased plasma and urinary estrogen

•

en:postprandial hyperglycemia (early in disease course)

•

en:platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy

•

en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres

•

en:patient cells show defective dna repair in response to irradiation and free radical damage

•

en:parathyroid hormone (pth) absent to low

•

en:paraproteinemia

•

en:organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:subtelomeric deletion of long arm of chromosome 3 (3q29)

•

en:increased csf and plasma gaba

•

en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

en:decreased plasminogen antigen

•

en:decreased plasma serine

•

en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts)

•

en:decreased long-chain fatty acid oxidation

•

en:decreased hexokinase activity in red blood cells

•

en:decreased complement factor d

•

en:decreased ciliary motility

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased activity of aromatic l-amino acid decarboxylase (aadc)

•

en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:citrullinemia

•

en:blood glucose normal

•

en:decreased serum trypsinogen

•

en:aprt deficiency measured in erythrocyte lysate

•

en:aneuploidy of the x chromosome

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

en:aminoaciduria

•

en:alpha-fetoprotein normal

•

en:alkaline phosphatase decreased

•

en:absent/reduced protein s and normal total proteins in heterozygote

•

en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

•

en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern)

•

en:hypoproteinemia (in 1 patient)

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:decreased switched memory b cells (in some patients)

•

en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally

•

en:hypomagnesemia

•

en:defect in dna repair

•

en:hyperprolinemia type 1

•

en:hyperphosphatemia

•

en:hyperoxaluria

•

en:hyperornithinemia

•

en:hyperlactemia

•

en:hyperglutaminemia

•

en:hypercholesterolemia (disorder)

•

en:hyperchloridura

•

en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia

•

en:hemizygous deletion at 7q11.23

•

en:hematuria, gross and microscopic

•

en:hypoalbuminemia

•

en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells

•

en:elevated erythrocyte aicar (zmp)

•

en:glucose-6-phosphate deficiency

•

en:electrolyturia (1 patient)

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

en:elevated 3-methylcitric acid

•

en:elevated ammonia

•

en:dehydration

•

en:elevated fasting triglycerides

•

en:elevated urine unsulfated chondroitin sulfate

•

en:erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip)

•

en:excess protoporphyrin in bile and feces but not in urine

•

en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid

•

en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system

•

en:increased urinary glutaric acid

•

en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:increased urinary potassium

•

en:increased urinary magnesium

•

en:increased urinary orotic acid (in some patients)

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:isochromosome 12p (i(12p))

•

en:isovalericaciduria

•

en:increased uric acid level

•

en:increased serum lysine (group b)

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:hyponatremia in infancy

•

en:increased serum creatine kinase during episodes

•

en:increased serum alanine (1 patient)

•

en:increased pyruvate in serum and csf

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:ketonemia

•

en:increased disialo- and asialotransferrin

•

en:increased csf taurine

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:impairment of urinary concentration

•

en:hypoproteinemia due to hypercatabolism

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes

•

en:kypokalemia

•

en:normal to mildly increased serum creatine kinase

•

en:reduced ige levels

•

en:hypoglycemia, fasting

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:phosphaturia (in some)

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit

•

en:partial terminal deletion of short arm of chromosome 1 (1p36)

•

en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration

•

en:normal urinary 17-ketosteroids

•

en:normal serum erythropoietin (epo, 133170)

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:normal serum bile acids

•

en:normal liver histology

•

en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

•

en:normal constitutional karyotype

•

en:normal cd8+/cd4+ ratio

•

en:normal arterial oxygen saturation

•

en:normal 46,xy karyotype

•

en:neutropenia (in 1 patient)

•

en:mildly elevated transaminases

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

en:low absolute lymphocyte count

•

en:loss of ciliary beat coordination

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:decreased urinary calcium and phosphate excretion

•

en:hyperuricemia

•

en:decreased activity of the pyruvate dehydrogenase (pdh) complex

•

en:decreased plasma total and free carnitine

•

en:decreased plasma hdl (<1/10 of normal levels)

•

en:decreased or normal serum c3

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or absent serum citrulline

•

en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased intracellular fmr protein

•

en:decreased dna polymerase-gamma (polg, 174763) activity

•

en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%)

•

en:defect in chylomicron secretion

•

en:decreased-absent intestinal mucosa lactase activity

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:anti-ssb positive

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:accumulation of cholesterol esters in various tissues

•

en:absent axonal flare response to intradermal histamine injection

•

en:abnormal serum protein electrophoresis (elevated alpha-2 band)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:'compensated hypothyroidism' with increased tsh and normal t4

•

en:thrombocytopenia (33-120 x 10(9)/l)

•

en:decreased tissue and serum alkaline phosphatase

•

en:deficient efflux of intracellular cholesterol

•

en:hypertriglyceridemia (rare)

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:hyperlipoproteinemia type iib

•

en:hyperglycemia

•

en:hypercholesterolemia

•

en:hyperbilirubinemia

•

en:hyperammonemia after protein intake

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:holocarboxylase synthetase deficiency

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:green serum

•

en:gonadotrophin increased

•

en:glycinuria

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:disproportionate work-related increase in blood lactate and pyruvate

•

en:exercise-induced myoglobinuria in adults

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated serum levels of adenosine

•

en:elevated propionate

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma desmosterol

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated alkaline phosphatase (if more than one affected site)

•

en:elevated 17-hydroxyprogesterone

•

en:electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms

•

en:echocardiogram abnormal

•

en:serum ammonia increased

•

en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d)

•

en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)

•

en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

•

en:myoglobinuria after exertion

•

en:myelin basic protein measurement, spinal fluid

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:mitochondrial malic enzyme reduced

•

en:mildly elevated creatine phosphokinase

•

en:marked hypobetalipoproteinemia

•

en:low to normal serum calcium

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low-molecular-weight proteinuria

•

en:isovaleric acidemia

•

en:intracellular granular material on ultrastructural analysis

•

en:normal axonal flare response after intradermal histamine injection

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary methylcitrate

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of cystine

•

en:increased urinary cross-linked n-telopetide of type i collagen

•

en:increased urinary and serum glycine

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased serum c-reactive protein (crp, 123260)

•

en:increased serum ammonia (group b)

•

en:increased levels of carcinoembryonic antigen

•

en:increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3

•

en:increased csf threonine

•

en:normal apoa-ii levels in homozygotes

•

en:normal collagen type i studies

•

en:immunoglobulin antibodies present

•

en:reticulocytosis

•

en:vitamin k deficiency

•

en:very long-chain fatty acids may be normal or increased

•

en:transcobalamin ii deficiency

•

en:thyroid hormone organification defect

•

en:spongy degeneration of brain on histology

•

en:serum triglycerides normal

•

en:serum creatine kinase may be normal

•

en:serum cortisol decreased

•

en:undetectable urinary hypoxanthine

•

en:serum alpha-1-antitrypsin (pi) deficiency

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:resistance to activated protein c due to factor v leiden

•

en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration

•

en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

•

en:reduced beating amplitudes in cilia

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:prothrombin time increased

•

en:protein total decreased

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:persistent ebv viremia

•

en:patients with factor xiii beta subunit deficiency usually also have decreased levels of plasma factor xiii alpha subunit

•

en:normal serum lipoprotein levels

•

en:normal plasma phytanic acid

•

en:normal or decreased serum erythropoietin (epo, 133170)

•

en:normal lactate (hcs)

•

en:increased 18-ohb to aldosterone ratio

•

en:serum c-reactive protein may be increased

•

en:igg deficiency

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

en:decreased number of igf1 receptors (igf1r, 147370) on cell surface

•

en:decreased mitochondrial complex v assembly

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased levels of plasma factor viii in patients with type 2n

•

en:decreased dna excision repair

•

en:decreased copper, iron, zinc

•

en:decreased clot retraction

•

en:decreased beta-galactosidase activity

•

en:decreased activity of galactocerebrosidase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:decreased activities of multiple sulfatases

•

en:carnitine deficiency

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:biotinidase deficiency

•

en:bile contains cholesterol crystals

•

en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

•

en:antithrombin iii deficiency

•

en:anti-ds dna antibody

•

en:absent or abnormal thyroglobulin

•

en:abnormal urinary compounds

•

en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)

•

en:vitamin d deficiency

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:urine osmolarity decreased

•

en:hypoalphalipoproteinemia

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:abnormal liver enzymes, episodic

•

en:decreased udp-glcnac

•

en:fluorescence in situ hybridization specific probe for mds critical region

•

en:hyperprolinemia (10-15 times normal)

•

en:deficiency of laminin in basement membranes

•

en:hypermagnesiuria

•

en:hyperammonemia, episodic

•

en:high serum inosine levels

•

en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q

•

en:hb h erythrocyte inclusions

•

en:glycosuria (less common)

•

en:globulin gamma serum plasma increased result

•

en:gamma-glutamylcysteine deficiency

•

en:frequent deletions of chromosome 9 in melanoma

•

en:hydrocortisone decreased

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

en:factor vii deficiency

•

en:elevated 8(9)-cholestenol

•

en:dermatan sulfate excretion in urine

•

en:elevated progesterone

•

en:elevated creatine kinase (in some patients)

•

en:elevated prothrombin time

•

en:elevated serum protein

•

en:elevated total iron-binding capacity

•

en:elevated urinary 3-methylglutarate

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue

•

en:hereditary angioedema

•

en:high plasma asparagine

•

en:hyperglycinemia (1 patient)

•

en:hyperinsulinemia

•

en:hyperlysinemia

•

en:hypocalcemia

•

en:hypocalciuria

•

en:hypoglycemia, intermittent

•

en:hypokalemia during periodic paralysis (most patients)

•

en:increased free cyanocobalamin in fibroblasts

•

en:hypoprebetalipoproteinemia

•

en:impaired mitochondrial translation

•

en:impaired platelet aggregation

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd)

•

en:increased lysine in serum and csf

•

en:increased nasal-potential difference (1 of 3 patients)

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:increased serum alpha-interferon (ifna1, 147660)

•

en:hepatic gamma-cystathionase deficiency

•

en:elevated branched-chain amino acids (in most patients)

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:elevated acth

•

en:increased serum glycerol

•

en:deficiency of glycoprotein (gp)iib-iiia complex

•

en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts

•

en:deficiency or absence of cytochrome b(-245)

•

en:deficiency or absence of p67-phox protein (type ii)

•

en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:disseminated intravascular coagulation

•

en:electron microscopy of patient respiratory cells shows defects of outer dynein arms

•

en:elevated apoa-i (1.8x normal) in homozygotes

•

en:gm2-ganglioside accumulation

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated csf glycine

•

en:elevated plasma alloisoleucine

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated serum acid phosphatase

•

en:elevated serum alpha-fetoprotein

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)

•

en:elevated urinary delta-aminolevulinic acid

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:increased serum and csf glycine

•

en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:proteinuria

•

en:orotic acid crystalluria

•

en:patient cells show abnormal mitochondrial morphology

•

en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects

•

en:phosphaturia

•

en:platelet glycoprotein iiia deficiency

•

en:presence of glial fibrillary acidic proteins (gfap) in astrocytes

•

en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes

•

en:prolonged partial thromboplastin time (ptt)

•

en:prolonged prothrombin time (pt)

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:normal urinary pterins

•

en:reduced igg levels, particularly igg2 subclass

•

en:serum thyroxine may be decreased or normal

•

en:severely decreased antigen levels of vwf and factor viii

•

en:transient neonatal hypocalcemia (2p21del)

•

en:translocation (x,7)(p11.3,q11.21) - in some patients

•

en:tyrosinemia

•

en:undetectable epinephrine (adrenaline) in plasma, urine, csf

•

en:urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid

•

en:very low leptin level

•

en:vitamin b12 deficiency (uncommon)

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:normal transferrin isoelectric profile

•

en:increased serum s-adenosylhomocysteine

•

en:low csf creatine

•

en:increased susceptibility to ebv infection

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:increased urinary fumaric acid

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:karyomegaly may be found in other visceral organs

•

en:ketosis

•

en:lactate high

•

en:leukocytosis

•

en:low or low-normal serum t4

•

en:normal to slightly elevated plasma cholesterol

•

en:low plasma methionine

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:methioninuria

•

en:myoglobinuria, particularly after physical exertion (25% of patients)

•

en:n-glycosylation defect

•

en:normal levels of complement factor h, but impaired function

•

en:normal lysyl hydroxylase activity

•

en:normal mitochondrial respiratory chain complex i-v (hcs)

•

en:normal renin level

•

en:normal to mildly increased mucopolysacchariduria

•

en:decreased xanthine dehydrogenase activity

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846170 • caches: c1=18 c2=1069 c3=2

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