Biochem

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Can you name the Biochem?

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

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