Biochem

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Can you name the Biochem?

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

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