Science Quiz / Inborn Errors of Metabolism

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Can you name the Inborn Errors of Metabolism?

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PresentationDiseaseExtra Info
peripheral neuropathy, angiokeratomas, CV/renal disease
peripheral neuropathy, developmental delay, optic atrophy, irritability, seizures
MR, emesis, lethargy, hypotonia, seizures, hypoglycemia, sweet smelling urine
hypoglycemia, jaundice, cirrhosis, emesis
central and peripheral demyelination, ataxia, dementia
fasting hypoglycemia, hepatomegaly
severe fasting hypoglycemia, lactic acidosis, hepatomegaly
HSM, progressive neurodegeneration, cherry red spot, foam cells
MR, seizures, fair skin, eczema, musty BO
infantile cataracts, galactosemia/galactosuria
dark CT, brown sclera, arthralgias, urine oxidizes black
PresentationDiseaseExtra Info
mild developmental delay, gargoylism, aggression
HSM, aseptic femoral necrosis, bone crises
MR, osteoporosis, tall, kyphosis, lens subluxation, atherosclerosis
developmental delay, gargoylism, airway obstruction, corneal clouding, HSM
progressive neurodegeneration, cherry red spot, onion skin lysosomes
cardiomegaly, hypotonia, respiratory distress, failure to thrive
painful muscle cramps, myoglobinuria w/ exercise
pellagra w/out niacin def'y
infantile cataracts, failure to thrive, jaundice, hepatomegaly, MR
tremor, slurring, somnolence, emesis, cerebral edema, orotic aciduria/acidemia, dec. BUN

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