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

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