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

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