Biochem

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Can you name the Biochem?

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

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