Biochem

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Can you name the Biochem?

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

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