Biochem

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Can you name the Biochem?

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

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