Inborn Errors of Metabolism Flashcards
1
Q
Defective enzyme in Isovaleric Acidemia
A
- Isovaleryl CoA dehydrogenase
2
Q
Product that builds up with Isovaleric Acidemia
A
- Isovaleryl CoA
3
Q
Symptoms of Isovaleric Acidemia
A
- Sweat feet smell
- Poor feeding
- Seizures
- NO LACTIC ACIDOSIS
4
Q
Treatment of isovaleric acidemia
A
- Protein restriction