Science Quiz / Biochem

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Can you name the Biochem?

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Score 0/25 Timer 15:00
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
hemolysis when exposed to infection or oxidizing agent
central and peripheral demyelination, ataxia, dementia
mild developmental delay, mild gargoylism, mild airway obstruction, aggressive behavior, no corneal clouding
cardiomegaly, liver failure, MR, hypotonia
mild, galactosemia, infantile cataracts
severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly
fructosuria/asx
hypoglycemia, jaundice, cirrhosis, CKD, N/V
pellagra, tryptophan in urine
progressive neurodegeneration, muscle weakness, developmental delay, cherry red spot on macula, 'onion-skin' lysosomes, NO HSM
high glycogen in muscle, painful cramps, myoglobinuria
FTT, jaundice, HSM/cirrhosis, infantile cataracts, MR
developmental delay, gargoylism, airway obstruction, corneal clouding, CAD, HSM
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
severe CNS defects, MR, death, urine smells sweet, excess alpha keto acids in blood/urine
homocystinuria, MR, osteoporosis, marfanoid, lens subluxation, atherosclerosis
dark connective tissue, black urine, arthralgia
HSM, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper
hyperammonia, orotic aciduria and acidemia, low BUN
cystinuria, staghorn calculi
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease, corneal changes, GI symptoms
progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
mild fasting hypoglycemia, normal blood lactate, mild hepatomegaly
MR, sz, fair skin, eczema, musty body odor, growth retardataion
peripheral neuropathy, developmental delay, optic atrophy, hypertonia, irritability, globoid cells
lack of melanin

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