Biochem

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Can you name the Biochem?

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

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