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

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