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

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