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

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