Inborn Errors of Metabolism Flashcards

1
Q

Defective enzyme in Isovaleric Acidemia

A
  • Isovaleryl CoA dehydrogenase
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2
Q

Product that builds up with Isovaleric Acidemia

A
  • Isovaleryl CoA
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3
Q

Symptoms of Isovaleric Acidemia

A
  • Sweat feet smell
  • Poor feeding
  • Seizures
  • NO LACTIC ACIDOSIS
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4
Q

Treatment of isovaleric acidemia

A
  • Protein restriction
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