Biochem

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Can you name the Biochem?

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

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