Diko : en:increased renal tubular phosphate reabsorption

en:increased renal tubular phosphate reabsorption

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1968910

Inhib

⊗

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IRC

(internet)

•

IRC

(physique)

Associations d'idées

[F]

›

1000

en:polyploid sperm heads

•

en:hypoglycosylation of plasma glycoproteins

•

en:methylsuccinic aciduria

•

en:low plasma citrulline

•

en:lactic acidemia (2p21del)

•

en:increased serum and urinary lactate

•

en:increased plasma lactate

•

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

•

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

•

en:proteinuria (rare)

•

en:deficiency of laminin in basement membranes

•

en:balanced translocation carrier 46,xy,+(11:18)(p13:q21)mat

•

en:antiphospholipid antibody

•

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

•

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

•

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

•

en:predominance of the d-stereoisomer

•

en:increased serum beta-carotene

•

en:renal abnormalities

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:normal lactate (hcs)

•

en:lactate high

•

en:severe hypernatremia in neonatal period

•

en:increased urinary 2-oxoglutaric acid

•

en:increased fractional excretion of uric acid

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:kidney wilms tumor

•

en:hyperglycinuria (disorder)

•

en:foam cells in visceral organs and cns

•

en:elevated progesterone

•

en:decreased factor xi

•

en:very low leptin level

•

en:tubulopathy (patient a)

•

en:high plasma citrulline (100-300 micromolar)

•

en:decreased activity of galactocerebrosidase

•

en:elevated plasma and urine succinylacetone

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

en:decreased serum haptoglobin (in some patients)

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:complement component deposits

•

en:anti-iga antibodies commonly present

•

en:abnormal nasal potential difference

•

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

•

en:increased urinary potassium

•

en:increased biliverdin in bodily fluids

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:intermittent dicarbonic aciduria

•

en:congenital anomaly of the kidney

•

en:mildly elevated acth

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:methylmalonic aciduria

•

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

•

en:hypergammaglobulinemia

•

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

•

en:complement component deposition

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum transaminase increased

•

en:serum calcitonin, increased

•

en:pseudohypertriglyceridemia in adult form

•

en:normal serum lipoprotein levels

•

en:multicystic dysplastic kidney

•

en:isovalerylglycinuria

•

en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii

•

en:multicystic kidney (rare, in males)

•

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

•

en:methylmalonic acidemia

•

en:low or absent thyrotropin (tsh)

•

en:low csf creatine

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

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

•

en:increased cholesterol

•

en:ethylmalonic aciduria

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

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

•

en:congenital hypoplasia of kidney

•

en:normal or mildly decreased arylsulfatase a activity

•

en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

•

en:thyroid dyshormonogenesis 3

•

en:elevated liver enzymes

•

en:urine cortisol, increased

•

en:low free carnitine

•

en:isovaleric acidemia

•

en:hyperbilirubinemia in those with liver failure

•

en:hyperbilirubinemia

•

en:elevated serum iron and iron binding capacity

•

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

•

en:echogenic kidneys with thick-walled pelvises (in some patients)

•

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

•

en:cystic renal dysplasia

•

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

•

en:androgens increased

•

en:adrenal hypoplasia

•

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

•

en:increased csf interferon

•

en:renal scarring

•

en:renal juxtaglomerular cell hypertrophy/hyperplasia

•

en:renal hypoplasia (less common)

•

en:low plasma triglyceride level

•

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

•

en:decreased eno3 activity

•

en:immune complex nephritis

•

en:defect in double-stranded dna repair

•

en:defective dna repair after ultraviolet radiation damage

•

en:anomalies of cholesterol levels

•

en:renal pelvis

•

en:sialylation defects

•

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

•

en:increased serum ammonia (group b)

•

en:cakut

•

en:increased urinary propionyl glycine

•

en:renal artery stenosis

•

en:pelvicalyceal dilatation (in 1 of 6 patients)

•

en:normal serum bile acids

•

en:normal cerebrospinal fluid

•

en:nephrotic syndrome, steroid-nonresponsive

•

en:decreased serum ferritin

•

en:type iii collagen defect

•

en:hyperchloremia (mean 111 mm)

•

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

•

en:eosinophilia, mild

•

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

•

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

•

en:increased nasal-potential difference (some)

•

en:defect in chylomicron secretion

•

en:increased urinary catecholamines

•

en:increased echogenicity of entire parenchyma

•

en:hydronephrosis (1 patient)

•

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

•

en:elevated plasma insulin

•

en:decreased fibroblast arylsulfatase a

•

en:decreased transferrin increased serum iron

•

en:decreased plasma gonadotrophin

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased csf pyridoxal 5-prime-phosphate (plp)

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:mildly elevated creatine phosphokinase

•

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

•

en:low fractional excretion of uric acid

•

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

•

en:hypoglycemia

•

en:vesicoureteral reflux

•

en:renal tubular insufficiency (1 patient)

•

en:renal colic (in some patients)

•

en:progression to end stage renal failure in late adulthood (fifth to seventh decade)

•

en:partial deficiency of factor xi(c)

•

en:increased serum triglycerides (in some patients)

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:fibronectin decreased

•

en:elevated plasma phytanic acid

•

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

•

en:decreased switched memory b cells

•

en:anti-factor viii positive

•

en:abnormal fecal fat

•

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

•

en:elevated plasma propionylcarnitine

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary sulfite

•

en:increased serum prostaglandin e2

•

en:hypertriglyceridemia, transient

•

en:hereditary nephritis

•

en:hepatic argininosuccinase deficiency

•

en:altered basement membrane

•

en:dilated calyces (in some patients)

•

en:decreased levels of cellular and mitochondrial fes-containing proteins

•

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

•

en:crossed fused renal ectopia

•

en:bilirubin conjugated increased

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

en:aprt deficiency measured in erythrocyte lysate

•

en:pelviureteric junction obstruction

•

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

•

en:splitting of the basement membrane

•

en:subtelomeric deletion of chromosome 16p

•

en:low alkaline phosphatase

•

en:transient eosinophilia in first decade

•

en:decreased acid beta galactosidase protein and activity

•

en:renal failure (in some patients)

•

en:persistent ebv viremia

•

en:no renal disease

•

en:methemoglobin concentration 12 to 19%

•

en:sepsis due to urinary tract infection

•

en:increased urinary glycerol

•

en:increased echogenicity (1 of 2 patients)

•

en:increased csf lactate during acute episodes

•

en:increased ammonia with exercise

•

en:hla-dqw6 association (dqb1*0602)

•

en:hereditary fructose intolerance

•

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

•

en:increased serum deoxyuridine

•

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

•

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

•

en:increased urinary excretion of coproporphyrin i

•

en:increased erythrocyte sedimentation rate, episodic

•

en:hyperthreoninuria

•

en:hyperchloremia (mean 109 mm)

•

en:cystic dilation of tubules (in some patients)

•

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

•

en:decreased mitochondrial nadp(h)

•

en:decreased grhpr activity

•

en:absent tyrosinase activity

•

en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)

•

en:lack of excessive parenchymal iron storage

•

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

•

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

•

en:normal maltase, isomaltase, and sucrase activity

•

en:fibrinogen decreased

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:normal plasma total homocysteine

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:mildly increased serum creatine kinase (in some patients)

•

en:normal or mildly increased serum creatine kinase

•

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

•

en:adrenal hyperplasia

•

en:small kidneys (in some patients)

•

en:scarred glomerular tufts

•

en:renal impairment

•

en:platelet antibody positive

•

en:oestradiol decreased

•

en:normal prolyl 4-hydroxylase activity

•

en:increased serum transferrin

•

en:aminoaciduria (less common)

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:deficiency of fat-soluble vitamins

•

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

•

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

•

en:galactosemia

•

en:hyperkalemia

•

en:molybdenum cofactor deficiency

•

en:normal transferrin isoelectric profile

•

en:occasionally mild elevation of csf protein

•

en:rheumatoid factor positive (finding)

•

en:decreased leptin

•

en:defect in oxidative phosphorylation

•

en:increased erythropoietin

•

en:large nuclei (karyomegaly) in renal tubules seen renal biopsy

•

en:normal csf 5-hiaa

•

en:prolidase deficiency

•

en:serum and csf lactate may be increased

•

en:parathyroid hormone (pth) absent to low

•

en:no c8 antigen detected

•

en:recurrent urinary tract infection

•

en:no complement deposition

•

en:no kidney disease

•

en:no renal failure

•

en:prominent leukocytosis (30,000/ml)

•

en:parathyroid hormone normal

•

en:pelvicalyceal dilatation

•

en:presence of cytochrome b(-245)

•

en:presence of pc mrna

•

en:normal serum biotin concentration

•

en:propionic acidemia

•

en:proteinuria, severe

•

en:proximal tubulopathy

•

en:normal to increased plasma glycine

•

en:interstitial cell infiltrate

•

en:normal exocrine pancreatic function

•

en:low serum magnesium

•

en:increased urine porphyrins at times

•

en:infantile hypophosphatasia

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:iodine depletion

•

en:keratan sulfate excretion in urine that decreases with age

•

en:kidney transplantation

•

en:low plasma hdl

•

en:low urinary cyclic amp response to pth administration

•

en:normal-to-decreased plasma glycine (fasting)

•

en:lysosomal-like storage vacuoles in various tissues

•

en:methylmalonic aciduria, mild

•

en:microcystic tubular dilatations

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:monomeric igm

•

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

•

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

•

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

•

en:t-lymphocytopenia

•

en:reduced renal corticomedullary differentiation

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:hilar area of the kidney

•

en:4-hydroxyphenylactic aciduria

•

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

•

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

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal liver enzymes (1 patient)

•

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

•

en:absent renal peroxisomes

•

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

•

en:accumulation of cholesterol esters in various tissues

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

en:acute hyperammonemia

•

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

•

en:alkaline phosphatase decreased

•

en:alkaline phosphatase serum increased

•

en:antineutrophil cytoplasmic antibody

•

en:vitamin k deficiency

•

en:urine uric acid decreased

•

en:renal biopsy showed interstitial fibrosis

•

en:renal stones (in one patient)

•

en:renal calcification (in some patients)

•

en:renal cortical microcysts

•

en:renal cystic dysplasia (1 patient)

•

en:renal failure (most common cause of death) (iowa type 107680.0010)

•

en:renal mesangiolipidosis

•

en:renal phosphate wasting

•

en:renal potassium wasting

•

en:renin decreased

•

en:urinary tract dilatation (in some patients)

•

en:serum ammonia increased

•

en:serum c-peptide and glucagon levels measurable

•

en:serum prolactin decreased

•

en:single kidney

•

en:increased urinary phospholipids

•

en:thyroid hormone organification defect

•

en:tubular atrophy

•

en:increased urinary prostaglandin e2

•

en:hyperarginemia

•

en:increased urinary hypoxanthine

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased or absent laminin beta-2 immunoreactivity in the glomerular basement membrane

•

en:decreased plasma serine

•

en:decreased serum and muscle coenzyme q

•

en:decreased serum c3 (atypical hus)

•

en:decreased tetrasialotransferrin levels

•

en:death in first weeks of life without dialysis

•

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

•

en:deficient nephron differentiation

•

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

•

en:denuded tubules

•

en:deposition of complement component c3 in glomerular basement membrane

•

en:dilated collecting tubules

•

en:duplicated calyx

•

en:decreased activity of complement factor d

•

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

•

en:elevated calcitonin

•

en:absent ch50 activity in complete c4 deficiency

•

en:blood urea nitrogen increased

•

en:left kidney

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:3-methylglutaric aciduria (3-mga)

•

en:abnormal eeg in 25% hospitalized patients

•

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

•

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

•

en:absent renal function

•

en:cystic nephroma

•

en:accumulation of guanidinoacetate in brain

•

en:acute-phase reactants during fever

•

en:aldosterone level increased above normal

•

en:alkaline phosphatase normal

•

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

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:coarse metachromatic granules in white blood cells

•

en:elevated bilirubin (bilirubinemia)

•

en:elevated circulating parathyroid hormone (pth) level

•

en:increased urinary carnitine

•

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

•

en:hydrocortisone decreased

•

en:hyperglycinemia (1 patient)

•

en:hyperplasia

•

en:hypoplastic renal arteries (rare)

•

en:iga nephropathy

•

en:impaired renal function (variable)

•

en:increased prevalence among the native american lumbee indians

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:increased serum acylcarnitines

•

en:increased serum glutamine

•

en:increased serum methionine

•

en:increased soluble il2 receptor

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased urinary 2-methylacetoacetic acid

•

en:high sister chromatid exchange (sce) rate

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:elevated fasting glucose

•

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

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:elevated levels of vitamin b12

•

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

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated serum transferrin saturation

•

en:elevated white blood cell cystine

•

en:fasting ketosis

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

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

•

en:focal segmental glomerulosclerosis (patient a)

•

en:foot process fusion

•

en:generalized amyloid deposition

•

en:glomerular tufts

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:hematuria, macroscopic and microscopic

•

en:bile shows increased cholesterol/phospholipid ratio

•

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

•

en:cholesterol normal

•

en:normal extrarenal responses to ddavp administration

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:microdeletion 22q11.2

•

en:multicystic dysplastic kidneys (prenatal onset)

•

en:multiple autoantibodies

•

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

•

en:normal csf neurotransmitters

•

en:normal lysl hydroxylase activity

•

en:low to very low hdl cholesterol

•

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

•

en:normal plasma phytanic acid

•

en:normal pyridinoline excretion in urine

•

en:normal serum levels of gamma-ggt (231950)

•

en:normocalcemia

•

en:no hyperphenylalaninemia

•

en:oligospermia or azoospermia

•

en:marked elevation of erythrocyte sedimentation rate

•

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

•

en:pelvic kidney (1 patient)

•

en:increased urinary fumaric acid

•

en:increased serum lactate in acute stage

•

en:increased serum methionine (reported in 2 cases)

•

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

•

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

•

en:increased susceptibility to ebv infection

•

en:increased uric acid with exercise

•

en:increased urinary 2-methylbutyrylglycine

•

en:inner and outer dynein arm defects, variable

•

en:low serum uric acid

•

en:intermittent 3-methylglutaconic aciduria

•

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

•

en:interstitial inflammation

•

en:ipsilateral renal agenesis

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low cd4+ count

•

en:low or undetectable c-peptide

•

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

•

en:phosphaturia

•

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

•

en:tyrosine loss

•

en:sterol 27-hydroxylase deficiency

•

en:swelling of endothelial cells

•

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

•

en:tay-sachs disease

•

en:thickening of the glomerular basement membrane on renal biopsy

•

en:thyroid dyshormonogenesis 4

•

en:transient neonatal hypoglycemia (2p21del)

•

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

•

en:smooth muscle antibodies positive

•

en:unilateral renal pelviectasis (rare)

•

en:uric acid normal

•

en:vacuolization in distal and collecting tubules

•

en:very low igm

•

en:kidney lobe

•

en:renal capsule

•

en:chromosomal instability

•

en:some cilia show central complex and radial spoke defects

•

en:single fused kidneys

•

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

•

en:renal hypodysplasia (in some patients)

•

en:proteinuria (in 2 of 3 siblings)

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:reduced excretion of calcium

•

en:renal anomalies (in some patients)

•

en:renal calculi (urate and calcium oxalate)

•

en:renal cysts (1 patient)

•

en:renal hemangioblastoma

•

en:renal hypoplasia (1 patient)

•

en:serum testosterone level normal

•

en:renal medullary dysplasia

•

en:saposin a deficiency (finding)

•

en:sce normal in heterozygotes

•

en:secondary decrease of plasma free carnitine

•

en:serum aldosterone elevated

•

en:serum bilirubin increased

•

en:serum copper decreased

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:plasma aldosterone normal

•

en:increased serum alkaline phosphatase (in some patients)

•

en:decreased xanthine dehydrogenase activity

•

en:decreased serum acth

•

en:decreased serum iron (in some patients)

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased serum vitamin a

•

en:decreased triiodothyronine level

•

en:decreased urinary excretion of uromodulin

•

en:defect in dna repair

•

en:decreased platelet derived growth factor

•

en:defect in retrograde intraflagellar transport in cilia

•

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

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:diffuse mesangial sclerosis (less common)

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:duplicated kidneys (rare)

•

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

•

en:decreased renal tubular phosphate excretion

•

en:decreased plasma glycine

•

en:elevated fibroblast free sialic acid

•

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

•

en:chronic kidney disease

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:congenital lobulation of kidney

•

en:contiguous gene deletion syndrome

•

en:corticomedullary cysts

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased activity of triosephosphate isomerase

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased plasma esterified cholesterol

•

en:decreased fumarate hydratase activity

•

en:decreased iga, igg, igm

•

en:decreased ldl cholesterol

•

en:decreased levels of certain coagulation factors

•

en:decreased levels of component x protein of the pdh complex

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

en:elevated 8-dehydrocholesterol

•

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

•

en:elevated sed rate

•

en:igg, decreased

•

en:hyperammonemia after protein intake

•

en:hyperphosphatemia, transient

•

en:hypertension

•

en:hypocalcemia

•

en:hypocalcemia (64% of adults)

•

en:increased renal salt reabsorption

•

en:i-cell disease

•

en:igg deficiency

•

en:high ornithine

•

en:immotile or weakly motile cilia

•

en:immunoglobulin antibodies present

•

en:immunoreactive pc protein

•

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

•

en:increased csf and plasma ghb

•

en:increased disialo- and asialotransferrin

•

en:increased interferon-alpha signal

•

en:hydronephrosis (in some patients)

•

en:hypoplastic kidneys (in some patients)

•

en:high ebv viral load

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated serum angiotensin-converting enzyme (ace)

•

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

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated urinary hyaluronic acid levels

•

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

•

en:enlarged, hyperechogenic kidneys (ultrasound)

•

en:euvolemia

•

en:end stage renal disease (age 6-35 years)

•

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

•

en:focal segmental glomerulosclerosis (less common)

•

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

•

en:glomerulonephropathy

•

en:glycinuria

•

en:glycosuria

•

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

•

en:hereditary angioedema

•

en:low serum cortisol

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary cortisol/cortisone ratio

•

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

•

en:increased urinary ketones

•

en:interstitial fibrosis

•

en:kidney disorder

•

en:low-to-normal platelet count

•

en:nephrolithiasis (rare)

•

en:low serum levels of branched-chain amino acids

•

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

•

en:membranous glomerulonephritis

•

en:mesangial cell proliferation

•

en:myelin basic protein measurement, spinal fluid

•

en:nephroblastomatosis

•

en:nephrocalcinosis (in some patients)

•

en:normal aldosterone

•

en:increased urinary 3-oh-propionic acid

•

en:inappropriately low urine osmolality

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased gamma-interferon

•

en:normal glomerular function

•

en:impairment of urinary concentration

•

en:impaired oxidation of pyruvate

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:increased cross-linked c-terminal telopeptide of type i collagen

•

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

•

en:increased csf and plasma gaba

•

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

•

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

•

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

•

en:increased serum creatine kinase (less common)

•

en:increased serum pyruvate, mild

•

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

•

en:increased serum triiodothyronine (t3)

•

en:increased serum uric acid

•

en:increased uric acid level

•

en:increased urinary 2-hydroxybutyrate

•

en:normal b12

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:normal lysosomal hydrolases

•

en:serum chloride level decreased (finding)

•

en:renal aplasia (less common)

•

en:renal disease (in some patients)

•

en:renal malrotation (rare)

•

en:renal tubular disorder

•

en:renal tubulopathy

•

en:routine liver function tests normal

•

en:serum acid phosphatase normal

•

en:serum complement decreased

•

en:raised c-reactive protein

•

en:some fragmented or disrupted golgi

•

en:thyroid dyshormonogenesis 5

•

en:transient hyperlipidemia

•

en:tubular calcification (in some patients)

•

en:tubular defect in presecretory reabsorption of urate

•

en:t cells may be increased or decreased

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:hypouricemia

•

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

•

en:proximal renal tubular acidosis

•

en:normal or increased serum creatine kinase

•

en:phosphate normal

•

en:normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin

•

en:normal serum parathyroid hormone (pth)

•

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

•

en:normal urinary pterins

•

en:no chromosomal breakage

•

en:no hyperuricemia

•

en:no ketonuria

•

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

•

en:prothrombin time increased

•

en:plasma protein c deficiency

•

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

•

en:platelet factor 4 decreased

•

en:platelet glycoprotein iiia deficiency

•

en:presence of vacuoles on muscle biopsy

•

en:progressive renal failure

•

en:prolinuria

•

en:protein total decreased

•

en:impaired n-glycosylation

•

en:aminoaciduria (1 patient)

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes

•

en:decreased numbers of glomeruli

•

en:decreased numbers of t regulatory cells

•

en:decreased or normal plasma insulin

•

en:decreased plasma total cholesterol

•

en:decreased renal function

•

en:decreased blood levels of cationic amino acids

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum trypsinogen

•

en:decreased tubular resorption of phosphate (in some patients)

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

en:degenerative cysts

•

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

•

en:direct hyperbilirubinemia

•

en:decreased csf folate

•

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

•

en:double renal pelvis (in some patients)

•

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

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:5-hiaa csf may be normal or decreased

•

en:abnormal liver function test

•

en:abnormal renal pelvises

•

en:allanson pantzar mcleod syndrome

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:antineutrophil antibody positivity

•

en:bleeding time normal

•

en:decreased activity of phosphoglycerate kinase 1

•

en:borderline elevated low-density lipoprotein

•

en:calyceal dilation

•

en:chromosome 11q23.3 deletion

•

en:congenital nephrotic syndrome - diffuse mesangial sclerosis

•

en:cystathioninemia

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:d-2-hydroxyglutaric aciduria

•

en:decreased acid sphingomyelinase activity

•

en:disseminated intravascular coagulation

•

en:duplication or deletion at 11p15.5

•

en:hyponatremic dehydration, rarely

•

en:hyperglycolic aciduria

•

en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine

•

en:holocarboxylase synthetase deficiency

•

en:homocystinuria (in some patients)

•

en:hydronephrosis (male)

•

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

•

en:hypercalciuria (in childhood)

•

en:hyperchloremia (mean 114 mm)

•

en:hyperinsulinemia

•

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

•

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

•

en:hypernatremia

•

en:hyperprostaglandinuria

•

en:hypocalcemia, transient

•

en:hypocalcemia (male)

•

en:hypogammaglobulinemia

•

en:hypoketotic hypoglycemia

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:high m-component

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

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

•

en:elevated urinary mevalonic acid

•

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

•

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

•

en:elevated lathosterol

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated sweat chloride

•

en:elevated testosterone

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:enlarged kidney

•

en:glycogen storage disease type v

•

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

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:fucosidosis

•

en:galactosuria without galactosemia

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:gaucher disease, type 1

•

en:glomerular basement membrane normal

•

en:abacterial leukocyturia

•

en:dark urine following exercise

•

en:abnormal cartilage collagen on em

•

en:low or absent iga levels

•

en:increased urinary taurine

•

en:increased urinary thymine

•

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

•

en:iron deficiency

•

en:iron overload (in some patients)

•

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

•

en:little to absent aspartylglucosaminuria activity

•

en:low plasma free and total carnitine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

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

•

en:low serum levels of ketone bodies

•

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

•

en:median onset of renal failure 19 years

•

en:medium chain dicarboxylic aciduria

•

en:methylglutaconic aciduria, mild

•

en:microduplication of chromosome 5p13

•

en:mildly elevated transaminases

•

en:increased urinary organic acids (in some patients)

•

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

•

en:mild subclinical decrease in renal function

•

en:increased plasma creatine

•

en:inappropriately normal or increased plasma hepcidin

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased free erythrocyte protoporphyrin

•

en:increased il-8

•

en:increased il1b increased soluble il2r

•

en:increased phytanic acid in body tissues and fluids

•

en:increased plasma pristanic acid

•

en:increased sodium-potassium pump activity

•

en:increased plasma proglucagon

•

en:increased platelet aggregation with ristocetin

•

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

•

en:increased serum bile acids

•

en:increased serum butyryl carnitine

•

en:increased serum creatine kinase (patient a)

•

en:increased serum gm-csf

•

en:increased serum iduronate sulfatase

•

en:mild hypertriglyceridemia

•

en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology

•

en:impaired o-glycosylation

•

en:serum carnitine deficiency

•

en:renal biopsy shows medullary cysts

•

en:renal duplication

•

en:renal dysplasia (in some patients)

•

en:renal glucose wasting

•

en:renal sodium wasting

•

en:renal structural anomalies (reported in 1 family)

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:serum cholesterol low or normal

•

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

•

en:serum homocysteine normal

•

en:skewed x-inactivation in females

•

en:small kidney

•

en:tubular basement membrane disintegration

•

en:type i, classic, decreased antithrombin iii levels

•

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

•

en:vascular structure of kidney

•

en:stroma of kidney

•

en:renal agenesis, unilateral (in some patients)

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:myoglobinuria

•

en:no evidence of common prenatal infections

•

en:myoglobinuria (reported in 1 patient)

•

en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)

•

en:normal axonal flare response after intradermal histamine injection

•

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

•

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

•

en:normal serum erythropoietin (epo, 133170)

•

en:no cartilage staining with toluidine blue

•

en:no ketosis

•

en:proper antibody response to protein vaccinations

•

en:no mucopolysacchariduria

•

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

•

en:organic aciduria, mild (in some patients)

•

en:p5c levels increased in urine

•

en:positive antinuclear antibody test

•

en:positive urinary bratton-marshall test

•

en:prolonged bleeding time

•

en:prolonged prothrombin and partial thromboplastin times

•

en:impaired renal uric acid clearance

•

en:obstructive uropathy

•

en:hypoalphalipoproteinemia

•

en:decreased csf hypocretin

•

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

•

en:decreased activity of coenzyme q10-dependent respiratory chain complexes

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased beta-thromboglobulin

•

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

•

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

•

en:cystic tubular dilatation in the cortex and medulla

•

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

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

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

•

en:decreased plasma and urinary ornithine

•

en:decreased plasma triglycerides

•

en:decreased renal calcium excretion

•

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

•

en:coombs positive hemolytic anemia

•

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

•

en:aminoaciduria (in some patients)

•

en:hyperkalemia during attacks

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:abnormal liver enzymes, intermittent

•

en:abnormal mitochondria in podocytes

•

en:absence of cpt ii protein

•

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

•

en:albuminuria

•

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

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:amylo-1,6-glucosidase deficiency

•

en:antiribonuclear protein positive

•

en:antithrombin iii deficiency

•

en:basement membrane thickening

•

en:biotinidase deficiency

•

en:cd4+/cd8+ ratio is reversed

•

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

•

en:chronic kidney insufficiency

•

en:decreased scad activity

•

en:carnitine deficiency

•

en:decreased serum carnitine in acute stage

•

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

•

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

•

en:focal cystic changes

•

en:folate-dependent fragile site at xq28

•

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

•

en:fused kidneys (rare)

•

en:gamma-glutamylcysteine deficiency

•

en:glomerular crescents (rare), seen on biopsy

•

en:hemoglobinuria (in some patients)

•

en:extremely low creatine excretion

•

en:hepatic argininosuccinate synthetase deficiency

•

en:high serum guanosine levels

•

en:homozygous 122kb deletion 11p15-p14

•

en:hyperbilirubinemia, unconjugated, 20-30mg/dl

•

en:hypercalciuria

•

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

•

en:decreased serum cholesterol (in some)

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:hb h erythrocyte inclusions

•

en:end-stage renal disease develops in childhood

•

en:discrete dilatation of the right kidney pelvis (rare)

•

en:decreased thrombospondin

•

en:elevated urinary epinephrine

•

en:decreased udp-glcnac

•

en:defective glcnac-pi synthesis

•

en:deficiency of creatine phosphate in brain

•

en:deficiency of fructokinase

•

en:deficiency or absence of p47-phox protein (type i)

•

en:dilated rough endoplasmic reticulum (rer)

•

en:deficiency of serum properdin p factor

•

en:elevated dihydrobiopterin in csf

•

en:elevated gamma-glutamyltransferase

•

en:elevated serum protein

•

en:elevated serum acid phosphatase

•

en:elevated leukotriene e(4)

•

en:decreased serum complement factor h

•

en:elevated fasting triglycerides

•

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

•

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

•

en:fatty infiltration

•

en:hyperlipidemia

•

en:galactose-deficient iga1 deposits in the glomerular mesangium, with or without igm and igg

•

en:focal tubular atrophy

•

en:glycogen accumulation in both liver and muscle

•

en:high urinary orotic acid

•

en:horseshoe kidney (1 patient)

•

en:hydroxyprolinuria

•

en:hypercholesterolemia (in 75%)

•

en:hyperechogenic kidneys (in some patients)

•

en:glomerulocystic dysplasia

•

en:increased 18-oxocortisol

•

en:hypermethioninemia, progressive

•

en:hyperphenylalaninemia

•

en:hyperprolinemia (10-15 times normal)

•

en:hyperuricuria

•

en:hypogammaglobulinemia, profound

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypomethioninemia

•

en:inability to concentrate urine

•

en:increased csf taurine

•

en:increased glomerular cellularity

•

en:increased histidine in blood, urine, and csf

•

en:enlarged kidneys due to extramedullary hematopoiesis

•

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

•

en:fasting hypoglycemia (early in disease course)

•

en:decreased telomerase activity

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:dilated bowman capsules

•

en:increased plasma and urinary pipecolic acid

•

en:decreased csf pyridoxal

•

en:decreased high molecular weight plasma factor viii/ vwf multimers

•

en:decreased methylcobalamin (mecbl)

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased or absent gch1 activity

•

en:decreased or absent histidase activity

•

en:decreased or normal serum factor i

•

en:decreased von willebrand factor

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:dyskinetic ciliary motility

•

en:elevated serum uric acid concentrations

•

en:ectopic kidneys (rare)

•

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

•

en:elevated 17-hydroxyprogesterone

•

en:elevated 7-dehydrocholesterol

•

en:elevated alkaline phosphatase

•

en:elevated androstenedione and testosterone

•

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

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated csf glycine

•

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

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated serum transaminase levels

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:increased plasma renin activity

•

en:reduced ige levels

•

en:normal serum plasmalogen

•

en:normal to elevated total plasma carnitine

•

en:no hematuria

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:plasma triglycerides increased

•

en:polycythemia

•

en:polyuria (in some)

•

en:postprandial hyperglycemia (early in disease course)

•

en:premature separation of centromeric heterochromatin

•

en:pyrimidinuria

•

en:relatively low urinary pge-m levels

•

en:normal serum cobalamin

•

en:renal anomalies (major)

•

en:renal failure by age 3

•

en:reticulocyte count increased

•

en:sclerosing glomerulonephropathy

•

en:serum c-reactive protein may be increased

•

en:serum cortisol decreased

•

en:serum creatine kinase 20-70 times normal

•

en:small echogenic kidneys

•

en:t-cell deficit

•

en:testicular hydrocele

•

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

•

en:normal serum complement levels

•

en:normal sedimentation rate

•

en:increased serum creatine kinase in acute stage

•

en:karyotype analysis normal finding

•

en:increased serum lactate, particularly after exercise

•

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

•

en:increased serum s-adenosylhomocysteine

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary isobutyryl glycine

•

en:increased urinary l-glycerate

•

en:increased urinary s-sulfocysteine

•

en:increased urinary succinic acid

•

en:iodide organification defect

•

en:isosthenuria

•

en:ketoses, metabolic

•

en:normal or mildly reduced sphingomyelinase activity

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low serum igg and iga

•

en:low to normal serum calcium

•

en:membranoproliferative glomerulonephritis (in about 26%)

•

en:microcystic kidney

•

en:mildly elevated blood ammonia

•

en:mild elevation of transaminases

•

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

•

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

•

en:nephritis

•

en:normal erythrocyte gs activity

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:decreased csf glycine

◀

Génériques

[F] [H]

›

en:increased

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6796434 • caches: c1=12 c2=1005 c3=1

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la

ti

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po

li

?!

!?

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