Biochem

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Can you name the Biochem?

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

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