Biochem

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Can you name the Biochem?

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

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