Science Quiz / Goljan 2 of X: Inborn Errors of Metabolism

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Can you name the Inborn Errors of Metabolism

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HintAnswer
Blocked degradation of branched amino acids
Serum studies show very high TGs and Cholesterol
Inheritance of PKU
Progressive neurodegeneration + developmental delay + cherry red macula + no HSM
Inheritance of hunter's syndrome
Accumulation of lipoproteins in enterocytes
Inheritance of hurler's syndrome
XLR accumulation of heparin or dermatan sulfate
Only sphingolipidosis inherited XLR
Deficiency of b-glucocerebrosidase
Classic finding in hartnup disease
MR + growth retardation + musty body odor + eczema
Orotic acid in urine + anemia + no hyperammonemia
Deficiency of Hexosaminidase A
Thromboembolism + MR + lens subluxation
Deficiency of argininosuccinate synthetase
Substance accumulated in tay sachs
Decreased activity of phenylalanine hydroxylase
Hereditary deficiency of apoB-100 and ApoB-48
Substance accumulated in fabry's disease
DD + gargoylism + airway obstruction + corneal clouding
AR defect of renal tubular amino acid transporter
Defect in orotidine 5-PTD puts this in urine
Deficiency of skeletal muscle glycogen phosphorylase
AR accumulation of heparin or dermatan sulfate
AA becomes essential in PKU
Deficiency of homogentistic acid oxidase
Difference in presentation between tay sachs and neimann pick
Deficiency of a-1,4-glucosidase
Deficiency in dihydrobiopterin reductase
First Sx of Fabry's?
Supplement given in PKU
HintAnswer
Finding in urine of OTC deficiency
Tryptophan in urine
Deficiency of glactocerebrosidase
Deficiency in benign fructosuria
Substance accumulated in hurler/hunter's disease
Manifestation of G6PD deficiency
Glycogen storage disease localized to muscle
Manifestation of glutathione reductase deficiency
G-1-P uridyl transferase deficiency
Polysaccharide in lysosomes + FTT + HSM + hypoglycemia + HLD + hyperuricemia
Inheritance of orotic aciduria
AA becomes essential in homocystinuria
AD disorder of early atherosclerosis
Treatment for aldolase B deficiency
HSM + aseptic necrosis of femur + bone crises
HSM + Xanthomas, but no atherosclerosis
MCC1 death in Fabry's?
Crumpled tissue-paper macrophages
Polysaccharide in lysosomes + low exercise tolerance + muscle cramping + rhabdo
Inheritance of fructokinase deficiency
Inheritance of neimann-pick dz
Decreased activity of tetrahydroboipterin cofactor
Deficiency of a-galactosidase A
Vitamin that improves homocystinuria
Increased LDLs
Accumulation of methionine
Orotic acid in urine + anemia + hyperammonemia
Deficiency of arylsulfatase A
Deficiency of iduronate sulfatase
MCC1 lysosomal storage disease
Inheritance of Gaucher's disease
OTC deficiency inheritance
HintAnswer
Early-onset bilateral cataracts
Substance accumulated in Neimann-Pick dz
Deficiency of sphingomyelinase
Excess in carbamoyl phosphate
Increased chylomicrons
Deficiency of G-6-Phosphatase
Polysaccharide in lysosomes + HSM + cardiomegaly + MR
Defective neutral amino acid transporter on renal-intestinal cells
AD disorder with early xanthomas + corneal arcs
Urine turns black if left standing
Primary Sx of T2GSD (Pompe's)
Deficiency in cystathione synthetase
Rapid, early, atherosclerosis
Vomiting/hypoglycemia with first meal supplement
Deficiency causes increased circulating methylmalonic acid
Inheritance of fabry's disease
Buildup in F1P causes hypoglycemia
Substance accumulated in Gaucher's dz
Increased TGs
Peripheral neuropathy of extremities + angiokeratoma + CV disease
Vitamin required to avoid methylmalonic aciduria
Mild form of Von Gierke's disease
Manifestation of pyruvate kinase deficiency
Vomiting/lethargy/FTT soon after breastfeeding starts
Deficiency in galactokinase
Substance accumulated in Krabbe's dz
Peripheral neuropathy + DD + optic atrophy
FTT + steatorrhea + acantholysis + ataxia + night-blindness
Progressive neurodegeneration + HSM + cherry-red macula + foam cells
Xanthomas + pancreatitis
Only XLR urea cycle disorder

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Created Jan 4, 2014ReportFavoriteNominate
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