Biochem

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Can you name the Biochem?

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

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