Diko : en:guanidinoacetate methyltransferase (gamt) deficiency

en:guanidinoacetate methyltransferase (gamt) deficiency

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C2748618

Associations d'idées

[F]

›

1000

en:severely decreased antigen levels of vwf and factor viii

•

en:serum complement decreased

•

en:occasional hypomagnesemia

•

en:abnormal electrophoretic mobility of type ii collagen

•

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

•

en:decreased serum factor b (atypical hus)

•

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

•

en:normal sweat chloride (3 of 3 patients)

•

en:routine liver function tests normal

•

en:urinary excretion of sialylated oligosaccharides

•

en:abnormal liver function tests (in some patients)

•

en:cd4+/cd8+ ratio often reversed

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:elevated bilirubin (bilirubinemia)

•

en:hyperalphalipoproteinemia

•

en:igg, decreased

•

en:increased serum triglycerides (in some patients)

•

en:normal complex ii activity

•

en:decreased palmitate oxidation

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:granular osmiophilic deposits (grod) in cells

•

en:increased serum arylsulfatase a.

•

en:green serum

•

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

•

en:increased serum lactate during metabolic crisis

•

en:low plasma tryptophan (inflammatory type b)

•

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

•

en:shortened telomeres (1 patient)

•

en:blood pyruvic acid increased

•

en:disseminated intravascular coagulation

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum creatine kinase, mild

•

en:increased disialo- and asialotransferrin

•

en:hyperammonemia

•

en:high ornithine

•

en:decreased or normal plasma insulin

•

en:defect in dna repair

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased mitochondrial complex v assembly

•

en:decreased complement factor d

•

en:cholesterol low

•

en:monoclonal gammopathy

•

en:increased urinary 2-alpha-ketoglutaric acid

•

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

•

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

•

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

•

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

•

en:serum bilirubin increased

•

en:normal aldosterone

•

en:molybdenum cofactor deficiency

•

en:medium chain dicarboxylic aciduria

•

en:platelet antibody positive

•

en:hepatic argininosuccinate synthetase deficiency

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated resting serum lactate, increased with exercise

•

en:dilated rough endoplasmic reticulum (rer)

•

en:decreased plasma glycine

•

en:ceruloplasmin decreased

•

en:variable defects of inner dynein arms

•

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

•

en:no ketosis

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary ketones

•

en:generalized aminoaciduria

•

en:increased triglycerides (less common)

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:hyperammonemia after protein intake

•

en:reduced erythrocyte gs activity

•

en:defects in mitochondrial oxidative phosphorylation

•

en:partial deficiency of factor xiii(c)

•

en:increased serum transferrin

•

en:decreased numbers of t regulatory cells

•

en:positive urinary bratton-marshall test

•

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

•

en:no c8 antigen detected

•

en:normal serum lipoprotein levels

•

en:normal apoa-ii levels in homozygotes

•

en:elevated free carnitine

•

en:microsomal hmg-coa reductase decreased

•

en:hypocholesterolemia

•

en:hyperlysinemia

•

en:hla-dqw6 association (dqb1*0602)

•

en:glutaric aciduria

•

en:increased urinary methylcitrate

•

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

•

en:increased urinary prostaglandin e2

•

en:increased urinary lactate

•

en:increased serum c-reactive protein, episodic

•

en:increased plasma long-chain acylcarnitines

•

en:elevated fecal levels of protoporphyrin and coproporphyrin at all times

•

en:hypophosphatemia (less common)

•

en:glycosuria (less common)

•

en:elevated plasma phytanic acid

•

en:decreased aminoacylase-1 activity

•

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

•

en:proteinuria (type ii, congenital)

•

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

•

en:elevated plasma and urine succinylacetone

•

en:csf pleocytosis, particularly of lymphocytes

•

en:microdeletion 22q11.2

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:persistent ebv viremia

•

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

•

en:decreased or absent peroxisome acyl-coa oxidase activity and protein

•

en:normal serum biotin concentration

•

en:normal serum creatine kinase

•

en:low to very low hdl cholesterol

•

en:increased urinary taurine

•

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

•

en:hyperarginemia

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:defect in double-stranded dna repair

•

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

•

en:chromosomal rearrangement

•

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

•

en:defective bile acid metabolism

•

en:hypertriglyceridemia, transient

•

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

•

en:increased creatinine

•

en:increased serum insulin-like growth factor-1 (igf1, 147740)

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:mild elevation of transaminases

•

en:immunoglobulin antibodies present

•

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

•

en:march myoglobinuria

•

en:upregulation of alpha-interferon-stimulated genes

•

en:hyperkalemia

•

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

•

en:decreased axonal flare response after intradermal histamine injection

•

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

•

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

•

en:decreased urinary excretion of uromodulin

•

en:hyperphenylalaninemia

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:infantile hypophosphatasia

•

en:normal isoelectric focusing of serum transferrin

•

en:serum testosterone decreased

•

en:thymic hormone decreased

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:increased prv-1 (162860) mrna

•

en:increased serum and csf glycine

•

en:increased serum erythropoietin (epo, 133170)

•

en:low or absent luteinizing hormone (lh)

•

en:neutropenia

•

en:serum phosphate concentration below normal

•

en:t-cell deficit

•

en:elevated urinary free sialic acid (n-acetylneuraminic acid)

•

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

•

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

•

en:increased serum vitamin b12

•

en:increased serum triiodothyronine (t3)

•

en:decreased plasminogen antigen

•

en:increased plasma free cholesterol

•

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

•

en:hypoproteinemia due to hypercatabolism

•

en:deficiency of saposins a, b, c, and d

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary phospholipids

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:methylmalonic aciduria, mild

•

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

•

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

•

en:plasma aldosterone increased

•

en:normal axonal flare response after intradermal histamine injection

•

en:low cholesterol esterification rates

•

en:increased serum citrulline (group b)

•

en:elevated serum lactate

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

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

•

en:serum acid phosphatase normal

•

en:increased total and conjugated bilirubin

•

en:ketonuria, acute

•

en:increased urinary magnesium

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary sialylglycopeptides

•

en:indirect bilirubin increased

•

en:low plasma citrulline

•

en:kypokalemia

•

en:leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm

•

en:loss of ciliary beat coordination

•

en:low or absent thyrotropin (tsh)

•

en:increased serum lactate

•

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

•

en:increased serum total cholesterol

•

en:increased csf interferon alpha

•

en:increased serum creatine kinase (less common)

•

en:increased serum beta-carotene

•

en:increased serum acyl carnitines

•

en:increased pristanic acid

•

en:increased plasma homogentisic acid (hga)

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:microscopic hematuria

•

en:increased csf immunoglobulin levels

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:increased biopterin in urine and csf

•

en:immotile or weakly motile cilia

•

en:hyponatremia in infancy

•

en:hypokalemia occurs during paralytic attacks

•

en:hypocitraturia

•

en:hyperthreoninuria

•

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

•

en:normal dermal hydroxylysine content

•

en:mildly elevated blood ammonia

•

en:premature chromosome condensation

•

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

•

en:t-lymphocytopenia

•

en:some cilia show central complex and radial spoke defects

•

en:sialylation defects

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:serum thiamine is normal

•

en:serum folate normal

•

en:serum bicarbonate increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:rhabdomyolysis in response to alcohol

•

en:reduced ige levels

•

en:reactive hypoglycemia

•

en:prothrombin time low

•

en:prolonged activated partial prothrombin time (appt)

•

en:polycythemia

•

en:mildly elevated transaminases

•

en:normal serum erythropoietin (epo, 133170)

•

en:myoglobinuria

•

en:myoglobinuria after exertion (in some patients)

•

en:nonketotic hypoglycemia

•

en:hypernatriuria

•

en:normal lysosomal hydrolases

•

en:normal parathyroid hormone (female)

•

en:no cartilage staining with toluidine blue

•

en:phytanic acid increased

•

en:no increased sensitivity to oxidative species

•

en:osteocalcin increased

•

en:partial deficiency of factor xi(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:pentagastrin stimulation test

•

en:hyperprolinemia (5-10 times normal)

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hyperchloremia (mean 111 mm)

•

en:creatine decreased

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased nk cells (in some patients)

•

en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes

•

en:decreased hexokinase activity in red blood cells

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased c3 activity

•

en:decreased beta-glucosidase protein and activity

•

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

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased activity of complement factor d

•

en:decreased acetyl-coa carboxylase activity

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:cells show increased sensitivity to ionizing radiation

•

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

•

en:bile contains cholesterol crystals

•

en:aminoaciduria (in some patients)

•

en:alpha fetoprotein increased

•

en:aldosterone concentration below normal

•

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

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

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

•

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

•

en:abnormal liver function tests (less common)

•

en:abnormal acylcarnitine profiles

•

en:3-methylglutaric aciduria (3-mga)

•

en:2,8-dihydroxyadenine (dha) urinary stones

•

en:type i, classic, decreased antithrombin iii levels

•

en:decreased serum cobalamin

•

en:decreased tetrasialotransferrin levels

•

en:hyperbilirubinemia in those with liver failure

•

en:elevated serum uric acid concentrations

•

en:holocarboxylase synthetase deficiency

•

en:high urinary orotic acid

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hematuria

•

en:glutathione deficiency

•

en:fucosidosis

•

en:fibroblasts show increased sensitivity to apoptosis

•

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:excessive iodide trapping

•

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

•

en:elevated urinary n,n-dimethylglycine (dmg)

•

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

•

en:elevated plasma methionine (methioninemia)

•

en:decreased uros activity (1 patient)

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

en:elevated csf/plasma glycine ratio

•

en:elevated acth

•

en:elevated 2-ketoglutarate (urine)

•

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

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)

•

en:dermatan sulfate excretion in urine

•

en:deletion of chromosome 18p11.2

•

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

•

en:deficiency or absence of p91-phox protein

•

en:deficiency or absence of p22-phox protein

•

en:deficiency of laminin in basement membranes

•

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

•

en:translocation or deletions involving 7p13 (severe case reports)

•

en:decreased csf serine

•

en:urinary excretion of mucopolysaccharides

•

en:increased serum s-adenosylhomocysteine

•

en:intermittent severe hypoglycemia (in some patients)

•

en:indirect hyperbilirubinemia

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary urate

•

en:increased urinary thymine

•

en:increased urinary sulfatide excretion

•

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

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary hga

•

en:increased urinary glycerol

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del)

•

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

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased serum plasminogen activator inhibitor-1 (pai1, 173360)

•

en:low 25-oh-vitamin d level

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum creatine kinase in acute stage

•

en:increased serum bilirubin (in some patients)

•

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

•

en:increased csf homovanillic acid (hva)

•

en:increased cellular sensitivity to uv light

•

en:increased biliverdin in bodily fluids

•

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

•

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

•

en:hypomagnesemia

•

en:hypertriglyceridemia (in some patients)

•

en:hypermagnesiuria

•

en:hyperchloremia (mean 109 mm)

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:intracellular granular material on ultrastructural analysis

•

en:low ldl cholesterol

•

en:hereditary fructose intolerance

•

en:postprandial hyperglycemia (early in disease course)

•

en:vacuolated lymphocytes

•

en:t cells may be increased or decreased

•

en:transient hyperlipidemia

•

en:thyroid dyshormonogenesis 5

•

en:serum testosterone level normal

•

en:serum iron normal

•

en:serum cholesterol low or normal

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:secondary decreases in complex i and iv activity

•

en:rheumatoid factor negative

•

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

•

en:reduced serum uric acid

•

en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)

•

en:prolonged bleeding time (10 - >30 minutes)

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:low or normal serum erythropoietin

•

en:patient cells show increased chromosome breakage

•

en:parathyroid hormone (pth) absent to low

•

en:organic aciduria

•

en:no dicarboxylic aciduria

•

en:normal serum transferrin profiles

•

en:normal serum cobalamin (vitamin b12)

•

en:normal serum and mucosal iga

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:monomeric igm

•

en:mildly elevated urinary mevalonic acid

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:markedly increased serum creatine kinase

•

en:lysyl hydroxylase deficiency

•

en:high nonceruloplasmin-bound serum copper

•

en:serum c-reactive protein may be increased

•

en:hepatic gamma-cystathionase deficiency

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:decreased levels of cpt2 protein

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased intracellular fmr protein

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased cholesterol (less common)

•

en:decreased beta-glucocerebrosidase protein and activity

•

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

•

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

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:chromosomal instability

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)

•

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

•

en:borderline elevated low-density lipoprotein

•

en:axonemes show normal structure

•

en:alkaline phosphatase normal

•

en:acth normal

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:accumulation of cholesterol esters in various tissues

•

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

•

en:5-oxoprolinase deficiency

•

en:abnormal secretin test

•

en:abnormal oral glucose tolerance

•

en:abnormal liver enzymes (rare)

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:decreased levels of plasma vwf antigen

•

en:absent 7-dehydrocholesterol

•

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

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

en:decreased natural killer cells

•

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

•

en:fibroblasts attach poorly

•

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

•

en:elevated urine ceramide levels

•

en:elevated urinary mevalonic acid

•

en:elevated urinary 3-methylglutaconate

•

en:elevated sweat chloride

•

en:elevated plasma propionylcarnitine

•

en:elevated inflammatory markers

•

en:elevated fasting glucose

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated calcitonin

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:generalized amyloid deposition

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

•

en:decreased plasminogen activity

•

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

•

en:decreased testosterone level

•

en:hematuria (less common)

•

en:elevated 17-hydroxyprogesterone

•

en:deficiency of fructokinase

•

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

•

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

•

en:distal xp22.3 segmental monosomy

•

en:elevated afp (endodermal sinus tumor)

•

en:increased pyruvate in serum and csf

•

en:lipopigment in extraneuronal cells

•

en:liver enzymes abnormal

•

en:low cd4+ count

•

en:low copper and ceruloplasmin

•

en:low serum magnesium

•

en:low leukocyte alkaline phosphatase activity

•

en:low or normal serum igm

•

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

•

en:low urinary orotic acid

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:mitochondrial deletions

•

en:lactic acidemia (2p21del)

•

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

•

en:isovalericaciduria

•

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

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary oligosaccharides

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary carnitine

•

en:increased serum prostaglandin e2

•

en:increased serum growth hormone levels

•

en:increased serum fgf23

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase during episodes

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:increased tissue long-chain acylcarnitines

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:normal ciliary structure and function

•

en:serum calcium normal

•

en:abetalipoproteinemia (lab finding)

•

en:3-methylglutaconic aciduria

•

en:2-aminoadipic aciduria

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)

•

en:thyroid dyshormonogenesis 4

•

en:systemic amyloidosis may occur

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:skewed x-inactivation in females

•

en:serum iron low (finding)

•

en:serum corticosterone increased

•

en:serum chloride level decreased (finding)

•

en:sce normal in heterozygotes

•

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

•

en:reduced bending capacity of cilia

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:protein urine absent

•

en:predominance of the d-stereoisomer

•

en:positive kveim-siltzbach skin test

•

en:platelet count normal

•

en:parathyroid hormone level increased

•

en:no chromosome breakage

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal platelet aggregation studies with adp, collagen, and ristocetin

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal number of t and b lymphocytes

•

en:normal liver histology

•

en:increased plasma phytanic acid

•

en:defect in mitochondrial and peroxisomal fission

•

en:increased plasma creatine

•

en:decreased clot retraction

•

en:decreased serum and muscle coenzyme q

•

en:decreased plasma total cholesterol

•

en:decreased monoamine oxidase a activity

•

en:decreased methylcobalamin (mecbl)

•

en:decreased levels of serum vitamin b12

•

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

•

en:decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf

•

en:decreased glutamine in bodily fluids

•

en:decreased galactokinase activity

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased fibroblast arylsulfatase a

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased antithrombin iii (rare)

•

en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity

•

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

•

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

•

en:creatine phosphokinase serum increased

•

en:citrullinemia

•

en:chronic hypercapnia

•

en:cerebrospinal fluid oligoclonal bands

•

en:b lymphocytopenia

•

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

•

en:alkaline phosphatase serum increased

•

en:absent tyrosinase activity

•

en:5-hiaa csf may be normal or decreased

•

en:abnormal bone marrow karyotype, t(8,21)

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:deficiency of alpha-1,4-glucosidase (acid maltase)

•

en:increased or normal serum growth hormone (gh, 139250)

•

en:homocystinemia

•

en:increased il6, episodic

•

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

•

en:increased creatine kinase, mild to moderate

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased 18-hydroxycortisol

•

en:increased 11-deoxycorticosterone

•

en:impairment of urinary concentration

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:hypoproteinemia

•

en:hypermethioninemia, progressive

•

en:hyperlipidemia

•

en:homocystinuria (in some patients)

•

en:hemophilia b

•

en:deficiency of fat-soluble vitamins

•

en:green urine

•

en:glycogen storage disease type vii

•

en:galactosuria

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:fasting chylomicronemia

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

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

•

en:elevated ammonia

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated alkaline phosphatase

•

en:electrocardiogram abnormal

•

en:dehydration

•

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

•

en:abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri

•

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

•

en:normal free urinary cortisol

•

en:normal exocrine pancreatic function

•

en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts

•

en:median mean platelet volume 13fl

•

en:low to low-normal magnesium

•

en:low serum levels of ketone bodies

•

en:low serum calcium

•

en:low serum alpha-fetoprotein (recessive)

•

en:low density lipoprotein increased

•

en:low csf creatine

•

en:low-normal platelet count (89-290 x 10(9)/l)

•

en:iron binding capacity total increased

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

en:incresased urinary pyruvate

•

en:increased urinary malic acid

•

en:increased urinary l-glycerate

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased urinary 2-oxoglutaric acid

•

en:increased urinary 2-butanone

•

en:increased total bilirubin may occur

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate, particularly after exercise

•

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

•

en:increased serum, urinary, and csf lysine

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal or increased serum phosphate

•

en:increased plasma branched-chain fatty acids

•

en:reticulocytosis

•

en:abnormal isoelectric focusing of serum transferrin

•

en:very low density lipoprotein increased

•

en:variably increased serum creatine kinase

•

en:urinary loss of potassium, sodium, calcium, and chloride

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:tyrosinemia

•

en:translocation of chromosomes 9 and 13

•

en:telomere shortening

•

en:some fragmented or disrupted golgi

•

en:severe amyloid angiopathy

•

en:serum triglycerides normal

•

en:saposin a deficiency (finding)

•

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

•

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

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:raised c-reactive protein

•

en:pt normal

•

en:proper antibody response to protein vaccinations

•

en:phosphaturia

•

en:partial deletion of long arm of chromosome 11 (11q23-qter)

•

en:parathyroid hormone normal

•

en:normal tyrosinase

•

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

•

en:normal plasma phytanic acid

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal or mildly increased serum gamma-ggt (231950)

•

en:increased plasma phospholipids

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:increased gamma-interferon

•

en:decreased erythrocyte plasmalogen

•

en:deficient efflux of intracellular cholesterol

•

en:decreased ubiquinone-10

•

en:decreased tetrasialo-transferrin

•

en:decreased serum thyroxine (t4)

•

en:decreased serum and salivary lactoferrin has been described in 1 family

•

en:decreased platelet derived growth factor

•

en:decreased plasma total and free carnitine

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased mucosal alkaline phosphatase

•

en:decreased mitochondrial nadp(h)

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased erythrocyte 2,3-diphosphoglycerate (2,3-dpg)

•

en:electrolyte disturbances from intractable diarrhea

•

en:decreased c3 antigen

•

en:decreased agt activity

•

en:decreased activity of pyruvate dehydrogenase complex

•

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

•

en:decreased-absent intestinal mucosa lactase activity

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:antithrombin iii decreased

•

en:anti-ssb positive

•

en:anomalies of cholesterol levels

•

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

•

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

•

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

•

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

•

en:anti-factor viii positive

•

en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished

•

en:hyperphosphatemia

•

en:elevated lathosterol

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf protein

•

en:increased excretion of urobilinogen

•

en:increased 18-ohb to aldosterone ratio

•

en:increased 11-deoxycortisol

•

en:impaired o-glycosylation

•

en:immotile cilia

•

en:igg deficiency

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypoglycemia

•

en:hypocalciuria

•

en:increased cholesterol

•

en:hyperglycolic aciduria

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:elevated mchc

•

en:hyperglycinemia (1 patient)

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated levels of vitamin b12

•

en:fasting ketosis

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:high plasma asparagine

•

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

•

en:glycosuria

•

en:glyoxalase deficiency

•

en:hydrocortisone decreased

•

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

•

en:keratan sulfaturia in some patients

•

en:lactate dehydrogenase increased

•

en:low maximal oxygen uptake on exercise testing

•

en:liver phosphorylase kinase (phk) deficiency

•

en:low alkaline phosphatase

•

en:metabolic acidosis

•

en:low to normal plasma methionine

•

en:low urinary cyclic amp response to pth administration

•

en:median mean platelet volume (mpv) 12.5fl

•

en:iron deficiency

•

en:increased serum levels of free plasma thyroid hormones

•

en:intermittent dicarbonic aciduria

•

en:increased urinary formiminoglutamic acid (figlu)

•

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

•

en:increased soluble il2 receptor

•

en:increased serum thrombopoietin may occur

•

en:increased serum bilirubin due to hemolysis

•

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

•

en:increased nasal-potential difference (some)

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

en:increased long-chain acylcarnitine

•

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

•

en:increased fibroblast free sialic acid

•

en:methionine adenosyltransferase deficiency

•

en:presence of serum anti-lu3 antibodies

•

en:methylmalonic acidemia

•

en:pseudohypertriglyceridemia in adult form

•

en:vitamin b12 deficiency (in some patients)

•

en:hyposthenuria (inability to concentrate urine normally)

•

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

•

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

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thyroid peroxidase defect

•

en:thyroid hormones increased

•

en:submucosal macrophages filled with sphingolipids

•

en:smooth muscle antibodies positive

•

en:severe hypernatremia in neonatal period

•

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

•

en:propionic acidemia

•

en:mild eosinophilia may occur

•

en:panhypogammaglobulinemia

•

en:oestradiol decreased

•

en:occasionally mild elevation of csf protein

•

en:normal urinary 17-ketosteroids

•

en:normal to slightly high alkaline phosphatase

•

en:normal serum cobalamin

•

en:normal lysyl oxidase activity

•

en:normal extrarenal responses to ddavp administration

•

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

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

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

•

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

•

en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts

•

en:hypocalcemia (male)

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

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

•

en:decreased xanthine dehydrogenase activity

•

en:decreased von willebrand factor

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum igm

•

en:decreased s-ado:saicar ratio

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:decreased plasma serine

•

en:decreased dna excision repair

•

en:decreased blood levels of cationic amino acids

•

en:decreased beta-galactosidase activity

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:decreased acid sphingomyelinase activity

•

en:at least 2 complementation groups

•

en:antithrombin iii deficiency

•

en:aminoaciduria (rare)

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:alkaline phosphatase decreased

•

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

•

en:abnormal fecal fat

•

en:abnormally low cerebrospinal fluid cystatin c

•

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

•

en:laboratory abnormalities

•

en:elevated 1,25(oh)2 d3

•

en:elevated dihydrobiopterin in csf

•

en:hypocalcemia, transient

•

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

•

en:hyperuricuria

•

en:hyperuricemia

•

en:hyperkalemia during attacks

•

en:hyperhomocystinemia

•

en:hypercholesterolemia (in 75%)

•

en:hypercholesterolemia

•

en:hyperammonemia, asymptomatic (2-5 times normal)

•

en:homocysteinemia

•

en:high serum osmolality

•

en:hepatic argininosuccinase deficiency

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:galactosylation defects

•

en:folic acid deficiency

•

en:foam cells in visceral organs and cns

•

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

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:elevated sweat chloride (some)

•

en:elevated serum protein

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated progesterone

•

en:elevated plasma galactose (galactosemia)

•

en:elevated il6

•

en:elevated gamma-glutamyltransferase

•

en:widespread interstitial fibrosis (visceral organs)

•

en:calciuria

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:low apolipoprotein

•

en:normal activity of von willebrand factor-cleaving protease

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mildly elevated acth

•

en:microduplication of chromosome 5p13

•

en:methylglutaconic aciduria, mild

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low plasma methionine

•

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

•

en:karyomegaly may be found in other visceral organs

•

en:normal csf 5-hiaa

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary hydroxyisovaleric acid

•

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

•

en:increased urinary carnitine esters

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum alanine

•

en:increased levels of carcinoembryonic antigen

•

en:increased l-2-hydroxyglutaric acid in urine, serum, and csf

•

en:increased ferritin

•

en:normal collagen type i studies

•

en:normal eosinophil peroxidase activity

•

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

•

en:premature separation of centromeric heterochromatin

•

en:thyroid dyshormonogenesis 3

•

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

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum pristanic acid increased

•

en:serum carnitine deficiency

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

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

•

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

•

en:pink urine

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:phosphaturia may disappear after a long period of time

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:partial deficiency of factor xiii (less common)

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no lactic acidosis

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal to mildly increased mucopolysacchariduria

•

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

•

en:normal serum parathyroid hormone (pth)

•

en:normal serum folate levels

•

en:increased di- and asialo-transferrin characteristic of type 1 pattern

•

en:schirmer test shows alacrima

•

en:impaired platelet aggregation

•

en:decreased activity of dihydrofolate reductase

•

en:decreased serum ferritin

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum cholesterol (in some)

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased plasma and urinary ornithine

•

en:decreased or absent d-bifunctional protein activity and protein

•

en:decreased neopterin and biopterin in urine

•

en:decreased glycerol kinase activity

•

en:decreased cortisol-binding globulin

•

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

•

en:decreased activity of mitochondrial complex i

•

en:cytoplasmic lamellar concentric inclusions

•

en:decreased whole blood serotonin

•

en:cilia may also be static, with slow activity

•

en:chondroitin 6-sulfate excretion in urine

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:antineutrophil antibody positivity

•

en:aldolase a deficiency

•

en:absent dystrophin on muscle biopsy

•

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

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal columnization of chondrocytes

•

en:hypoxia

•

en:decreased serum iron (in some patients)

•

en:absent axonal flare response to intradermal histamine injection

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:defect in chylomicron secretion

•

en:hypokalemia

•

en:hypoalphalipoproteinemia

•

en:hypoalbuminemia

•

en:hyperthreoninemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hyperchloremia (mean 114 mm)

•

en:hypercalciuria (in childhood)

•

en:hypercalcemia

•

en:hyperammonemia, episodic

•

en:hypofibrinogenemia

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:elevated il1-beta

•

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

•

en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

•

en:dyskinetic ciliary motility

•

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

•

en:hyposialylation of o-linked serum glycans

•

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

•

en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated urinary ornithine, lysine, arginine

•

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

•

en:elevated pth (parathyroid hormone)

•

en:elevated serum iron

•

en:elevated serum phosphorus

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:eosinophilia, mild

•

en:excessive urinary 5-oxo-l-proline

•

en:galactosemia

•

en:glomerular filtration rate decreased

•

en:glucosuria, mild, intermittent

•

en:glycinuria

•

en:hemizygous deletion at 7q11.23

•

en:hair bulb tyrosinase present

•

en:hereditary angioedema

•

en:heteroplasmic partial duplication of mtdna

•

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

•

en:hyperglycemias, postprandial

•

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

•

en:hypertryptophanemia

•

en:hypogammaglobulinemia, profound

•

en:elevated serum bile acids

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:homocystinuria

•

en:decreased serum complement factor h

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:increased csf lactate

•

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

•

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

•

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

•

en:decreased beta-thromboglobulin

•

en:decreased b cells

•

en:decreased conversion of beta-carotene to vitamin a (retinol)

•

en:decreased dermal hydroxylysine content

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased scad activity

•

en:elevated plasma ornithine (~10-fold)

•

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

•

en:decreased triiodothyronine level

•

en:defective glcnac-pi synthesis

•

en:deficiency or absence of p22-phox (608508) protein

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

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

•

en:echocardiogram abnormal

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

en:increased creatine kinase (ck)

•

en:normal plasma total homocysteine

•

en:increased interferon-alpha signal

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:normal pyridinoline excretion in urine

•

en:normal serum phytanic and pristanic acid

•

en:normal to increased plasma glycine

•

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

•

en:orotic acid crystalluria

•

en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11)

•

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

•

en:polymorphonuclear leukocytosis, episodic

•

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

•

en:protein total decreased

•

en:normal lysyl hydroxylase activity

•

en:prothrombin time increased

•

en:pyruvate-induced insulin secretion

•

en:reduced oxygen affinity (e.g. hb thionville 141800.0168)

•

en:serum lactate is usually normal

•

en:serum thyroxine may be decreased or normal

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:thrombocytosis (in some patients)

•

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

•

en:variable hyperlipidemia

•

en:normal phytanic acid

•

en:neutrophilia, both basal and during infections

•

en:increased plasma lactate

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased plasma pipecolic acid

•

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

•

en:increased serum lipoproteins

•

en:increased serum thymidine

•

en:increased serum thyrotropin

•

en:increased serum transaminases (in 1 of 3 patients)

•

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

•

en:increased tissue long-chain fatty acids

•

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

•

en:increased urinary fumaric acid

•

en:mucopolysaccharidosis type iiid

•

en:increased urinary levels of maoa substrates (endogenous bioamines)

•

en:intermittent ethylmalonic aciduria

•

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

•

en:large spermatozoa

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low plasma arginine

•

en:mildly elevated creatine phosphokinase

•

en:mildly elevated hdl in heterozygotes

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:mildly increased serum lactate

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845980 • caches: c1=22 c2=1991 c3=3

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