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Can you name the Biochem?

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

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