Biochem

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Can you name the Biochem?

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

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