Biochem

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Can you name the Biochem?

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

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