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

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