Biochem

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Can you name the Biochem?

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

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