Biochem

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Can you name the Biochem?

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

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