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

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