Biochem

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Can you name the Biochem?

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

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