Le Diko - en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

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Le Diko - en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

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en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:variable hyperlipidemia

•

en:undetectable urinary hypoxanthine

•

en:transient neonatal hypocalcemia (2p21del)

•

en:decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased serum trypsinogen

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:glutathione deficiency

•

en:increased serum alanine (1 patient)

•

en:increased serum methionine

•

en:phosphaturia (in some)

•

en:saccharopine dehydrogenase deficiency

•

en:markedly elevated sodium in urine, sweat, saliva, and stool

•

en:anti-ssb positive

•

en:intracellular granular material on ultrastructural analysis

•

en:serum lactate is usually normal

•

en:chromosomal instability

•

en:low or undetectable c-peptide

•

en:low or absent follicle stimulating hormone (fsh)

•

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

•

en:increased serum lactate (mild)

•

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

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts

•

en:decreased c3 activity

•

en:decreased complement factor d

•

en:decreased nk cells (in some patients)

•

en:decreased secretion of igf1 in response to gh administration

•

en:glycogen storage disease type v

•

en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine

•

en:methylsuccinic aciduria

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:normal exocrine pancreatic function

•

en:iron overload (in some patients)

•

en:metachromasia of white blood cells and fibroblasts

•

en:increased bone serum acid phosphatase

•

en:immotile cilia

•

en:homocystinuria

•

en:elevated urinary 3-methylglutaconate

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

en:increased serum fgf23

•

en:decreased or absent ciliary motility

•

en:decrease plasma serine (fasting)

•

•

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

•

en:direct coombs test negative

•

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

•

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

•

en:orotic aciduria

•

en:low csf creatinine

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:deficient ribose-s-phosphate isomerase (rpi) in fibroblasts

•

en:decreased serum free thyroxine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

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

•

en:transferase deficiency galactosemia

•

en:reduced total and free carnitine in plasma and tissue

•

en:urinary excretion of cationic amino acids (lysine, arginine, ornithine)

•

en:antithrombin iii deficiency

•

en:decreased csf arginine

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

•

en:oestradiol decreased

•

en:prolonged activated partial prothrombin time (appt)

•

en:transaminitis

•

en:increased c10:2-carnitine

•

en:laboratory abnormalities

•

en:increased serum alkaline phosphatase (in some patients)

•

en:axonemes show normal structure

•

en:parathyroid hormone normal

•

en:low plasma methionine

•

en:no c8 antigen detected

•

en:phosphaturia may disappear after a long period of time

•

en:increased histidine in blood, urine, and csf

•

en:hyperkalemia (>6.2 mm in both dominant and recessive)

•

en:gaucher disease, type 1

•

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

•

en:increased urinary carnitine

•

en:polyploid sperm heads

•

en:normal prolyl 4-hydroxylase activity

•

en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes

•

en:monoclonal gammopathy

•

en:low-normal igm

•

•

en:decreased acid sphingomyelinase activity

•

en:hypogammaglobulinemia

•

en:hypercholesterolemia (10%)

•

en:hla-b27 haplotype association (95% patients)

•

en:elevated liver enzymes

•

en:smooth muscle antibodies positive

•

en:associated with serum anti-phospholipid antibodies in about 50% of patients

•

en:abnormal serum transferrin pattern (in some patients)

•

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

•

en:elevated erythrocyte aicar (zmp)

•

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

•

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

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

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

•

en:persistent ebv viremia

•

en:parathyroid hormone (pth) absent to low

•

en:low acth level

•

en:increased urinary l-glycerate

•

en:plasma ammonia not elevated

•

en:increased plasma progastrin

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated lathosterol

•

en:elevated ferritin l subunit

•

en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency

•

en:decreased renal calcium excretion

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:hypoalphalipoproteinemia

•

en:hepatic argininosuccinase deficiency

•

en:serum osmolality decreased

•

en:normocalcemia

•

en:increased il6, episodic

•

en:high sweat electrolyte

•

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

•

en:elevated urinary pge(2) levels

•

en:elevated androstenedione and testosterone

•

en:deficient fibroblast aicar-tf activity

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

en:vitamin b12 deficiency (in some patients)

•

en:elevated plasma propionylcarnitine

•

en:chromosome inversion - inv2(p12q14) in 2 patients

•

en:increased neopterin in urine and csf

•

en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity

•

en:normal sweat electrolytes

•

en:normal or increased serum phosphate

•

en:methylmalonic aciduria

•

en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients)

•

en:increased interferon-alpha signal

•

en:increased csf interferon

•

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

•

en:elevated sepiapterin in csf

•

en:decreased methylmalonyl-coa mutase activity

•

en:increased erythrocyte sedimentation rate, episodic

•

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

•

en:increased serum pyruvate, mild

•

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

•

en:factor vii deficiency

•

en:decreased antithrombin iii (rare)

•

en:elevated leukotriene e(4)

•

en:elevated hcg or afp or both (embryonal carcinoma)

•

en:decreased phgdh activity (fibroblasts)

•

en:broad tissue deposition of amylopectin-like material

•

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

•

en:increased tissue long-chain acylcarnitines

•

en:deletion of chromosome 18p11.2

•

en:increased urinary prostaglandin e2

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:methioninuria

•

en:low to normal serum calcium

•

en:low maximal oxygen uptake on exercise testing

•

en:increased urinary 3-methylglutaconic acid

•

en:increased serum thymidine

•

en:hyperprolinemia (10-15 times normal)

•

en:deficiency of serum properdin p factor

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:serum acid phosphatase normal

•

en:elevated urinary delta-aminolevulinic acid

•

en:low total serum protein

•

en:increased serum lactate (in some patients)

•

en:increased plasma levels of bile acid intermediates

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:5-hiaa csf may be normal or decreased

•

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

•

en:decreased urinary sulfate

•

en:decreased serum and muscle coenzyme q

•

en:decreased leptin

•

en:alkaline phosphatase decreased

•

en:normal or decreased serum potassium

•

en:normal igm levels

•

en:disturbed visual and brainstem auditory evoked responses indicative of cns demyelination

•

en:protein urine absent

•

en:hypertriglyceridemia (in some patients)

•

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

•

en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp)

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:keratan sulfate excretion in urine that decreases with age

•

en:increased urinary 2-oxoglutaric acid

•

en:patient cells show abnormal mitochondrial morphology

•

en:elevated serum iron

•

en:elevated fasting glucose

•

en:decreased whole blood serotonin

•

en:decreased iga, igg, igm

•

en:decreased activity of thiopurine s-methyltransferase

•

en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

•

en:urinary prostaglandin e

•

en:increased urinary excretion of coproporphyrin i

•

en:hypoglycemia, fasting

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary cyclic amp (camp) in response to ddavp administration

•

en:increased urinary vanillylmandelic acid (vma)

•

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

•

en:increased urinary oligosaccharides

•

en:increased urinary tiglylglycine

•

en:intracellular accumulation of unesterified cholesterol

•

en:intermittent dicarbonic aciduria

•

en:interstitial deletion of 17p11.2 (most common is 3.7mb)

•

en:increased urinary 2-methyl-3-hydroxybutyric acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased plasma phytanic acid

•

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

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum prostaglandin e2

•

en:increased serum lysine (group b)

•

en:increased serum glycine, leucine, isoleucine, valine

•

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

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

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

•

en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp)

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 18-hydroxycortisol

•

en:hypokalemia occurs during paralytic attacks

•

en:iron deficiency

•

en:iodine depletion

•

en:pcs involves most of all chromosomes of a metaphase

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:panhypogammaglobulinemia

•

en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340)

•

en:tsh decreased

•

en:transient eosinophilia in first decade

•

en:thymic hormone decreased

•

en:sweat test normal

•

en:skewed x-inactivation in females

•

en:sialylation defects

•

en:serum folate normal

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:prolonged bleeding time

•

en:presence of cytochrome b(-245)

•

en:hyperglycinemia

•

en:partial deficiency of factor xi(c)

•

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

•

en:organic aciduria, mild (in some patients)

•

en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

•

en:occasionally mild elevation of csf protein

•

en:normal to mildly increased serum creatine kinase

•

en:normal to increased plasma threonine

•

en:normal to elevated total plasma carnitine

•

en:normal parathyroid hormone (female)

•

en:normal iga levels

•

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

•

en:multi-tailed spermatozoa

•

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

•

en:methylmalonic aciduria, mild

•

en:median mean platelet volume (mpv) 12.5fl

•

en:low urinary orotic acid

•

en:low or undetectable insulin

•

en:low levels of serum mg(2+) in the absence of other electrolyte disturbances

•

en:hyperhomocystinemia

•

en:elevated csf glycine

•

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

•

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

•

en:decreased or absent gch1 activity

•

en:decreased levels of csf hypocretin (hcrt, 602358)

•

en:decreased glutamine in bodily fluids

•

en:decreased beta-glucosidase protein and activity

•

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

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of mitochondrial complex ii (succinate dehydrogenase)

•

en:decreased activity of galactocerebrosidase

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:chromosomal rearrangement

•

en:decreased or increased serum testosterone

•

en:biotinidase deficiency

•

en:bilirubin conjugated increased

•

en:aneuploidy of the x chromosome

•

en:aminoaciduria (in some patients)

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts

•

en:absent tyrosinase activity

•

en:absence of outer dynein arms

•

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

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

•

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

•

en:2-oxoadipic aciduria

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:decreased or absent steroid sulfatase activity

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:hyperbilirubinemia in those with liver failure

•

en:elevated plasma alloisoleucine

•

en:hyperammonemia after protein intake

•

en:homocystinuria (in some patients)

•

en:high urinary orotic acid

•

en:heparan sulfate excretion in urine

•

en:glycoamino aciduria

•

en:generalized aminoaciduria

•

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

•

en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

•

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

•

en:elevated serum long-chain fatty acids

•

en:elevated serum iron and iron binding capacity

•

en:elevated sed rate

•

en:elevated prothrombin time

•

en:elevated plasma phytanic acid

•

en:elevated liver transaminases

•

en:decreased plasma zinc levels

•

en:elevated hepatic transaminases

•

en:elevated erythrocyte sedimentation rate (mean 90mm/h)

•

en:elevated csf/plasma glycine ratio

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated alkaline phosphatase (in one patient)

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased thyroxine level

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased red cell pyruvate kinase activity

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:4-hydroxyphenylpyruvic aciduria

•

en:elevated 17-hydroxyprogesterone

•

en:abnormal liver enzymes (1 patient)

•

en:increased urinary malic acid

•

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

•

en:methylglutaconic aciduria, mild

•

en:markedly increased serum creatine kinase

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:large spermatozoa

•

en:lactic acidosis

•

en:lack of lysosomal inclusions in visceral organs

•

•

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

•

en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:incresased urinary pyruvate

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary sulfatide excretion

•

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

•

en:normal activity of von willebrand factor-cleaving protease

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased total bilirubin may occur

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum iduronate sulfatase

•

en:increased serum ferritin (in some patients)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma phospholipids

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf glycine

•

en:increased csf, plasma, and urinary l-dopa

•

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:reticulocytosis

•

en:variably increased serum creatine kinase

•

en:abnormal phospholipid profile

•

en:undetectable plasma dbh activity

•

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:thyroid dyshormonogenesis 5

•

en:t1 transport protein (glucose-6-phosphate translocase) defect

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

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

•

en:serum creatine kinase may be normal or increased

•

en:serum calcium elevated

•

en:serum aldosterone elevated

•

en:secondary decreases in complex i and iv activity

•

en:schirmer test shows alacrima

•

en:renin decreased

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:reduced igg levels, particularly igg2 subclass

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:prolonged activated partial thromboplastin time (aptt)

•

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

•

en:platelet glycoprotein iiia deficiency

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:no ketonuria

•

en:no evidence of perinatal infection

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol)

•

en:normal serum lipoprotein levels

•

en:normal serum creatine kinase

•

en:normal renin level

•

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

•

en:urine odor, maple syrup

•

en:impaired creatine uptake in fibroblasts

•

en:decreased cholesterol (less common)

•

en:dyskinetic ciliary motility

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum 18-ohb

•

en:decreased platelet derived growth factor

•

en:decreased plasma total and free carnitine

•

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

•

en:decreased plasma and urinary ornithine

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)

•

en:decreased cortisol-binding globulin

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

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

•

en:decreased agt activity

•

en:decreased activity of triosephosphate isomerase

•

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

•

en:decreased acid sphingomyelinase activity (less than 5%)

•

en:cytogenetic breakpoints range from 10q23.3-q26.2

•

en:csf pleocytosis, particularly of lymphocytes

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:bilirubin may or may not be increased

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:bicarbonaturia

•

en:argininosuccinic aciduria

•

en:aminoaciduria (less common)

•

en:abnormal urinary organic acids

•

en:electrolyte disturbances from intractable diarrhea

•

en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

•

en:igg, decreased

•

en:hair bulb tyrosinase present

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:elevated 8-dehydrocholesterol

•

en:hypocholesterolemia

•

en:hypocalcemia

•

en:hyperuricosuria

•

en:hyperlysinemia

•

en:hyperkalemia

•

en:hyperinsulinemia

•

en:hyperglycolic aciduria

•

en:hyperglutaminemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hydrocortisone decreased

•

en:homocysteinemia (in some patients)

•

en:high m-component

•

en:hypofibrinogenemia

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:elevated plasma cholestanol

•

en:granular osmiophilic deposits (grod) in cells

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated levels of vitamin b12

•

en:elevated liver function tests

•

en:elevated mchc

•

en:elevated androstenedione

•

en:elevated testosterone

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fragmentation of the mitochondrial network

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:elevated urinary phosphoethanolamine

•

en:glucosuria, mild, intermittent

•

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

•

en:median mean platelet volume (mpv) 20fl

•

en:microtubule disorganization in some cilia

•

en:mildly decreased serum creatinine

•

en:mildly elevated hepatic enzymes

•

en:normal cd8+/cd4+ ratio

•

en:neutral hyperaminoaciduria

•

en:normal aldosterone

•

en:normal lysosomal hydrolases

•

en:normal or increased serum creatine kinase

•

en:normal or mildly increased serum creatine kinase

•

en:low to normal plasma methionine

•

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

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:low serum ceruloplasmin

•

en:long-chain dicarboxylic aciduria

•

en:liver phosphorylase kinase (phk) deficiency

•

•

en:ketonuria, acute

•

en:increased urinary magnesium

•

en:increased urinary glutaric acid

•

en:increased urinary dihydropyrimidines

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased serum triiodothyronine (t3)

•

en:increased serum total cholesterol

•

en:increased serum osteocalcin

•

en:increased serum lactate

•

en:increased serum arylsulfatase a.

•

en:normal serum plasmalogen

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:3-methylglutaric aciduria

•

en:normal transferrin saturation

•

en:structural abnormalities seen on chromosome analysis

•

en:4-hydroxyphenylactic aciduria

•

en:increased pyruvate in serum and csf

•

en:1.61- and 1.76-mb microduplication of 3q29

•

en:very low igm

•

en:very long chain fatty acid accumulation

•

en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle

•

en:variable defects of inner dynein arms

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

•

en:tyrosine loss

•

en:tyrosinemia (transient, resolves in infancy)

•

en:type iii collagen defect

•

en:transient neonatal hypoglycemia (2p21del)

•

en:serum prolactin decreased

•

en:no chromosome breakage

•

en:propionic acidemia

•

en:partial deficiency of factor xiii(c)

•

en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair

•

en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

•

en:peroxisome deficiency

•

en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em)

•

en:poor mitogenic response to growth factors

•

en:pseudohypertriglyceridemia in adult form

•

en:serum iron raised

•

en:reactive hypoglycemia

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:relatively low urinary pge-m levels

•

en:rheumatoid factor positive (finding)

•

en:serum bicarbonate increased

•

en:serum chloride level decreased (finding)

•

en:increased serum acyl carnitines

•

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

•

en:increased plasma pristanic acid

•

en:anti-iga antibodies commonly present

•

en:decreased levels of serum vitamin b12

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased dna excision repair

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased ciliary motility

•

en:decreased acetyl-coa carboxylase activity

•

en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))

•

en:creatine kinase normal between episodes

•

en:cerebrospinal fluid oligoclonal bands

•

en:b lymphocytopenia

•

en:bile contains cholesterol crystals

•

en:ballooned neurons

•

en:amylo-1,6-glucosidase deficiency

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

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

•

en:aldosterone concentration below normal

•

•

en:affected mother has normal plasma zinc levels and is not zinc-deficient

•

en:accumulation of guanidinoacetate in brain

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes, episodic

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal acylcarnitine profiles

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:decreased monoamine oxidase a activity

•

en:decreased serum igm

•

en:increased il-6

•

en:hematuria, macroscopic and microscopic

•

en:increased csf taurine

•

en:increased csf 3-methoxytyrosine (3-mt)

•

en:increased csf, plasma, and urinary 3-methoxytyrosine

•

en:immediate (type i) skin test reactivity

•

en:hypoproteinemia

•

en:hypophosphatemia (less common)

•

en:hypocalcemia, transient

•

en:hyperoxalaemia

•

en:hypernatriuria

•

en:hypermagnesemia

•

en:hyperlipidemia

•

en:hyperkalemia during attacks

•

en:hyperbilirubinemia

•

en:hereditary factor x deficiency

•

en:gamma-glutamylcysteine deficiency

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:foam cells in visceral organs and cns

•

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

•

en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712)

•

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

•

en:elevated serum transaminase levels

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma acth

•

en:elevated fasting triglycerides

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated 1,25(oh)2 d3

•

en:disseminated intravascular coagulation

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:5-oxoprolinase deficiency

•

en:normal igg levels

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)

•

en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

•

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

•

en:normal csf neurotransmitters

•

en:myelin basic protein measurement, spinal fluid

•

en:more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes

•

en:mild elevation of triglycerides

•

en:medium chain dicarboxylic aciduria

•

en:marked hypobetalipoproteinemia

•

en:low serum concentration of intercellular adhesion molecule 1 (icam1)

•

en:low serum calcium

•

en:low ldl cholesterol

•

en:low cholesterol esterification rates

•

en:low 25-oh-vitamin d level

•

en:low-to-normal platelet count

•

en:liver function tests normal

•

en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:ketonuria (1 patient)

•

en:interstitial or terminal deletion of 18q

•

en:increased urinary thymine

•

en:increased urinary succinic acid

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased uric acid with exercise

•

en:increased transferrin saturation (>60%)

•

en:increased serum vascular endothelial growth factor (vegf, 192240)

•

en:increased serum lactate in acute stage

•

en:increased serum gamma-ggt (231950)

•

en:increased serum creatine kinase in acute stage

•

en:increased serum arylsulfatase a (10-20x)

•

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

•

en:increased serum and csf glycine

•

en:normal plasma phytanic acid

•

en:normal serum folate levels

•

en:increased prv-1 (162860) mrna

•

en:protein total decreased

•

en:abnormal secretin test

•

en:vitamin k deficiency

•

en:variable respiratory chain enzyme deficiency

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:upregulation of alpha-interferon-stimulated genes

•

en:thyroid dyshormonogenesis 3

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum phosphate concentration below normal

•

en:serum homocysteine normal

•

en:serum cortisol decreased

•

en:serum cholesterol low or normal

•

en:reduced serum uric acid

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:reduced cd4+ count and proportionally increased cd8+ count

•

en:prolonged prothrombin time (pt)

•

en:normal serum parathyroid hormone (pth)

•

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

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:pms have increased metabolic ratio of unchanged drug-to-metabolite in urine

•

en:platelet antibody positive

•

en:pipecolic acid accumulation.

•

en:phosphorylase kinase deficiency in liver and muscle

•

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

•

en:occasional hypomagnesemia

•

en:no mucopolysacchariduria

•

en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal urinary cyclic amp response to pth administration

•

en:normal serum phytanic and pristanic acid

•

en:increased serum, urinary, and csf lysine

•

en:serum gastrin increased

•

en:increased plasma vldl, ldl

•

en:decreased levels of the e2 subunit protein

•

en:decreased ubiquinone-10

•

en:decreased tetrasialo-transferrin

•

en:decreased telomerase activity

•

en:decreased serum vitamin a

•

en:decreased serum thiamine pyrophosphate

•

en:decreased serum iga

•

en:decreased serum bun

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased plasma glycine

•

en:decreased plasmalogens

•

en:decreased phk activity in liver

•

en:decreased or absent apolipoprotein a-i

•

en:decreased mitochondrial nadp(h)

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased levels of plasma vwf antigen

•

en:deficiency of fructokinase

•

en:decreased fumarate hydratase activity

•

en:decreased erythrocyte plasmalogen

•

en:decreased axonal flare response after intradermal histamine injection

•

en:cytogenetic deletion of chromosome 19q13

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:cutaneous anergy

•

en:creatine phosphokinase increased

•

en:creatine kinase levels may normalize with disease progression

•

en:anomalies of cholesterol levels

•

en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts

•

en:adrenocorticotropic hormone, increased

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:defect in n- and o-glycosylation

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

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

•

en:homozygous 122kb deletion 11p15-p14

•

en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine

•

en:increased plasma 2-methylbutyrylcarnitine

•

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

•

en:increased csf and plasma gaba

•

en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:inappropriately low urine osmolality

•

en:inactive mutant form of red cell carbonic anhydrase b in one sibship

•

en:impaired platelet aggregation

•

en:hyponatremic dehydration, rarely

•

en:hypoglycosylated serum transferrin

•

en:hypocalcemia (64% of adults)

•

en:hyperglycinemia (1 patient)

•

en:increased 18-ohb to aldosterone ratio

•

en:high serum inosine levels

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:heteroplasmic partial duplication of mtdna

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated urine ceramide levels

•

en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment

•

en:factor viii deficiency

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:fluorescence of red blood cells by uv microscopy

•

en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency

•

•

en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)

•

en:increased serum s-adenosylmethionine

•

en:increased serum thrombopoietin may occur

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased tissue levels of free fatty acids

•

en:increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs

•

en:increased urinary acetoacetic acid

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urine porphyrins at times

•

en:ketoses, metabolic

•

en:increased serum lactate hydrogenase

•

en:increased serum beta-hexosaminidase (10-20x)

•

en:increased serum creatine kinase, mild

•

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

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased plasma long-chain acylcarnitines

•

en:increased fas ligand

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased ck-mb

•

en:increased bone-specific alkaline phosphatase

•

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

•

en:low alkaline phosphatase

•

en:impaired oxidation of pyruvate

•

en:impaired response to gm-csf

•

en:increased hepatic parenchymal cell stainable iron

•

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

•

en:low growth hormone levels

•

en:normal serum 25-hydroxyvitamin d3

•

en:protein c decreased

•

en:iga antiendomysial antibodies (ema)

•

en:prolidase deficiency

•

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

•

en:positive urine dnph screening test

•

en:plasma triglycerides increased

•

en:plasmalogen deficiency

•

en:pentagastrin stimulation test

•

en:no elevation of free fatty acids

•

en:normal to slightly high alkaline phosphatase

•

en:normal total urinary coproporphyrin

•

en:normal serum bile acids

•

en:normal sedimentation rate

•

en:low or absent adrenocorticotropic hormone (acth) in some patients

•

en:normal extrarenal responses to ddavp administration

•

en:normal erythrocyte gs activity

•

•

en:normal arterial oxygen saturation

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:myoglobinuria (reported in 1 patient)

•

en:multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes

•

en:mitochondria dna deletion

•

en:mildly abnormal glycosylation of serum transferrin, type 1 pattern

•

en:methylmalonic acidemia

•

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

•

en:low rai (radioactive iodine) uptake

•

en:igm deficiency

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:decreased activity of complement factor d

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum cobalamin

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values)

•

en:decreased or normal serum factor b

•

en:decreased or absent histidase activity

•

en:decreased mitochondrial complex v assembly

•

en:decreased fibroblast arylsulfatase a

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased circulating cortisol level

•

en:decreased beta-galactosidase activity

•

en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678)

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:decreased t cells

•

en:carnitine deficiency

•

en:blood glucose normal

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:abnormal urinary oligosaccharides

•

en:abnormal urinary compounds

•

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

•

en:abnormal igfr1 function

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:85-90% dgs patients have deletion of 22q11.2

•

en:3-methylglutaric aciduria (3-mga)

•

en:reduced erythrocyte gs activity

•

en:decreased tetrasialotransferrin levels

•

en:decreased uros activity (1 patient)

•

en:hypoglycorrhachia (low glucose in csf)

•

en:fasting chylomicronemia

•

en:hypocitraturia

•

en:hypocalciuria or normocalciuria

•

en:hyperuricemia

•

en:hyperprostaglandinuria

•

en:hypergammaglobulinemia

•

en:hypercalciuria

•

en:hemoglobin decreased

•

en:galactosylation defects

•

en:fumarase deficiency

•

en:fibrinogen decreased

•

en:female carriers show markedly skewed x inactivation

•

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

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:defective dna repair after ultraviolet radiation damage

•

en:elevated urinary hyaluronic acid levels

•

en:elevated total bilirubin

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated serum insulin-to-c-peptide ratio

•

en:elevated serum acid phosphatase

•

en:elevated plasma stigmasterol

•

en:elevated plasma campesterol

•

en:elevated l-2-hydroxyglutaric acid (urine)

•

en:elevated gastrin concentration

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:defect in oxidative phosphorylation

•

en:defect in mitochondrial and peroxisomal fission

•

en:pyrimidinuria

•

en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

•

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

•

en:increased sodium-potassium pump activity

•

en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein

•

en:lactic acidemia

•

en:iodide organification defect

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary propionyl glycine

•

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

•

en:increased urinary excretion of cystine

•

en:increased urinary 2-butanone

•

en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid

•

en:sce normal in heterozygotes

•

en:increased succinyladenosine (s-ado) in serum, urine, and csf

•

en:increased serum serotonin in 25%

•

en:low or low-normal serum t4

•

en:increased serum alanine

•

en:increased igm level

•

en:increased excretion of urobilinogen

•

en:increased csf pyruvic acid

•

en:increased beta-alanine (in 1 of 2 patients)

•

en:igg deficiency

•

en:hypouricemia

•

en:hyponatremia

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypoglycemia, intermittent

•

en:hypertryptophanemia

•

en:hyperchloremia (mean 114 mm)

•

en:low or absent thyroid-stimulating hormone (tsh)

•

en:low to low-normal magnesium

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:type ii, normal antithrombin iii level but decreased activity

•

en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues

•

en:severely decreased palmitate oxidation

•

en:serum prolactin increased

•

en:serum pristanic acid increased

•

en:serum carnitine deficiency

•

en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect

•

•

en:partial deficiency of factor xiii (less common)

•

en:orotic acid crystalluria

•

en:no lactic acidosis

•

en:normal to increased plasma glycine

•

en:low to very low hdl cholesterol

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal or mildly decreased serum levels of free thyroid hormones

•

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

•

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

•

en:normal baseline cortisol

•

en:neutrophilia, both basal and during infections

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mitochondrial malic enzyme reduced

•

en:mild hyperammonemia

•

en:microsomal hmg-coa reductase decreased

•

en:median mean platelet volume (mpv) 18fl

•

en:markedly reduced igg levels

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:increased susceptibility to ebv infection

•

en:glucose breath hydrogen test shows malabsorption of glucose and galactose

•

en:absent/reduced free proteins and absent total protein s

•

en:complex organic aciduria

•

en:cilia may also be static, with slow activity

•

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

•

en:cholesterol normal

•

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

•

en:androgens increased

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:alkaline phosphatase normal

•

en:aldolase a deficiency

•

en:accumulation of cholesterol esters in various tissues

•

en:absent anti-insulin receptor antibodies

•

en:abnormal transaminases (1 patient)

•

en:cytoplasmic lamellar concentric inclusions

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:fasting hyperinsulinemia

•

en:abacterial leukocyturia

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:urinary excretion of sialylated oligosaccharides

•

en:serum thiamine is normal

•

en:serum growth hormone increased

•

en:serum creatine kinase may be increased

•

en:serum cortisol elevated

•

en:serum corticosterone increased

•

en:serum calcium normal

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:cystathionine beta-synthase deficiency disease

•

en:abnormal cartilage collagen on em

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:decreased sulfite oxidase activity

•

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

•

en:elevated serum transferrin saturation

•

en:elevated serum lactate

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma and urine succinylacetone

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:diagnosis by exposing muscle biopsy to caffeine and/or halothane

•

en:defective glcnac-pi synthesis

•

en:defective (ca2+) mobilization in t cells

•

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

•

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

•

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

•

en:decreased intracellular fmr protein

•

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

•

en:decreased serum ferritin

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased asparagine levels (in some patients)

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased levels of coenzyme q10 in skeletal muscle (5-35%)

•

en:decreased plasma triglycerides

•

en:decreased plasminogen activity

•

en:decreased serum cholesterol (in some)

•

en:phytanic acid accumulation

•

en:low density lipoprotein increased

•

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

•

en:normal transferrin isoelectric profile

•

en:normal calcium (female)

•

en:normal apoa-ii levels in homozygotes

•

en:mildly elevated hdl in heterozygotes

•

en:intermittent 3-methylglutaconic aciduria

•

en:low apolipoprotein

•

en:little to absent aspartylglucosaminuria activity

•

•

en:isovaleric acidemia

•

en:iron binding capacity total increased

•

en:increased urinary taurine

•

en:increased urinary hga

•

en:positive antinuclear antibody test

•

en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt)

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:positive urinary bratton-marshall test

•

en:severe thrombocytopenia (30-60 x 10(9)/l)

•

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

•

en:ultra large von willebrand factor (ul-vwf) in plasma

•

en:translocation of chromosomes 9 and 13

•

en:telomere shortening

•

en:spongy degeneration of brain on histology

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:premature separation of centromeric heterochromatin

•

en:serum iron normal

•

en:serum copper decreased

•

en:serum and csf lactate may be increased

•

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

•

en:saposin a deficiency (finding)

•

en:round, yellow-brown dha urine crystals

•

•

en:increased tissue long-chain fatty acids

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6847025 • caches: c1=8 c2=1003 c3=1

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