Biochem

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Can you name the Biochem?

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

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