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

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