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

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