Biochem

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Can you name the Biochem?

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

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