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

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