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Can you name the Biochem?

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Score 0/25 Timer 15:00
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
mild developmental delay, mild gargoylism, mild airway obstruction, aggressive behavior, no corneal clouding
severe CNS defects, MR, death, urine smells sweet, excess alpha keto acids in blood/urine
dark connective tissue, black urine, arthralgia
pellagra, tryptophan in urine
progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
hyperammonia, orotic aciduria and acidemia, low BUN
lack of melanin
mild fasting hypoglycemia, normal blood lactate, mild hepatomegaly
severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly
HSM, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper
developmental delay, gargoylism, airway obstruction, corneal clouding, CAD, HSM
cardiomegaly, liver failure, MR, hypotonia
high glycogen in muscle, painful cramps, myoglobinuria
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
progressive neurodegeneration, muscle weakness, developmental delay, cherry red spot on macula, 'onion-skin' lysosomes, NO HSM
cystinuria, staghorn calculi
peripheral neuropathy, developmental delay, optic atrophy, hypertonia, irritability, globoid cells
hemolysis when exposed to infection or oxidizing agent
central and peripheral demyelination, ataxia, dementia
homocystinuria, MR, osteoporosis, marfanoid, lens subluxation, atherosclerosis
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease, corneal changes, GI symptoms
MR, sz, fair skin, eczema, musty body odor, growth retardataion
hypoglycemia, jaundice, cirrhosis, CKD, N/V
mild, galactosemia, infantile cataracts
FTT, jaundice, HSM/cirrhosis, infantile cataracts, MR

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