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

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