Science Quiz / Inborn Errors of Metabolism

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Can you name the Inborn Errors of Metabolism?

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Score 0/21 Timer 05:00
PresentationDiseaseExtra Info
central and peripheral demyelination, ataxia, dementia
hypoglycemia, jaundice, cirrhosis, emesis
painful muscle cramps, myoglobinuria w/ exercise
progressive neurodegeneration, cherry red spot, onion skin lysosomes
mild developmental delay, gargoylism, aggression
tremor, slurring, somnolence, emesis, cerebral edema, orotic aciduria/acidemia, dec. BUN
peripheral neuropathy, angiokeratomas, CV/renal disease
severe fasting hypoglycemia, lactic acidosis, hepatomegaly
pellagra w/out niacin def'y
infantile cataracts, failure to thrive, jaundice, hepatomegaly, MR
HSM, aseptic femoral necrosis, bone crises
PresentationDiseaseExtra Info
MR, seizures, fair skin, eczema, musty BO
infantile cataracts, galactosemia/galactosuria
HSM, progressive neurodegeneration, cherry red spot, foam cells
MR, emesis, lethargy, hypotonia, seizures, hypoglycemia, sweet smelling urine
fasting hypoglycemia, hepatomegaly
dark CT, brown sclera, arthralgias, urine oxidizes black
peripheral neuropathy, developmental delay, optic atrophy, irritability, seizures
MR, osteoporosis, tall, kyphosis, lens subluxation, atherosclerosis
developmental delay, gargoylism, airway obstruction, corneal clouding, HSM
cardiomegaly, hypotonia, respiratory distress, failure to thrive

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