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

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