Biochem

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Can you name the Biochem?

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

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