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Can you name the Biochem?

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

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