Science Quiz / Inborn Errors of Metabolism

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QUIZ: Can you name the Inborn Errors of Metabolism?

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

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