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

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Created May 21, 2012ReportNominate
Tags:Clickable Quiz, error

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