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

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