Biochem

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Can you name the Biochem?

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

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