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

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