Biochem

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Can you name the Biochem?

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

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