A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacidCoA transferase deficiency with gene mutations
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder that results in severe ketoacidosis due to a defect in ketone utilization. We describe a case of a 12-month-old infant presenting with severe metabolic acidosis, ketosis, and hyperammonemia, a combinatio...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-07-01
|
| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X221111274 |