Science Quiz / Biochem

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QUIZ: Can you name the Biochem?

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Score 0/25 Timer 15:00
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
hemolysis when exposed to infection or oxidizing agent
cystinuria, staghorn calculi
lack of melanin
homocystinuria, MR, osteoporosis, marfanoid, lens subluxation, atherosclerosis
mild developmental delay, mild gargoylism, mild airway obstruction, aggressive behavior, no corneal clouding
progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly
FTT, jaundice, HSM/cirrhosis, infantile cataracts, MR
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease, corneal changes, GI symptoms
hyperammonia, orotic aciduria and acidemia, low BUN
progressive neurodegeneration, muscle weakness, developmental delay, cherry red spot on macula, 'onion-skin' lysosomes, NO HSM
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
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
hypoglycemia, jaundice, cirrhosis, CKD, N/V
MR, sz, fair skin, eczema, musty body odor, growth retardataion
central and peripheral demyelination, ataxia, dementia
cardiomegaly, liver failure, MR, hypotonia
peripheral neuropathy, developmental delay, optic atrophy, hypertonia, irritability, globoid cells
fructosuria/asx
mild fasting hypoglycemia, normal blood lactate, mild hepatomegaly
developmental delay, gargoylism, airway obstruction, corneal clouding, CAD, HSM
pellagra, tryptophan in urine
high glycogen in muscle, painful cramps, myoglobinuria
mild, galactosemia, infantile cataracts
dark connective tissue, black urine, arthralgia

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