Biochem

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Can you name the Biochem?

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

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