- Methylmalonic acidemia
- Propionic acidemia
- Isovaleric acidemia
- Glutaric acidemia Type I
- 3-Hydroxy-3-methylglutaryl CoA Lyase deficiency
- 3-Methylcrotonyl-CoA Carboxylase deficiency
Description – Organic acidemias are a class of inherited metabolic disorders that lead to the accumulation of organic acids in blood and urine. While a family history of neonatal death should prompt consideration of organic acidemia, a negative family history does not exclude the possibility.
Clinical Features – Clinical symptoms may include vomiting, metabolic acidosis, ketosis, dehydration, coma, hyperammonemia, lactic acidosis, hypoglycemia, failure to thrive, hypotonia, global developmental delay, sepsis and hematologic disorders. The non-distinct clinical presentation may initially be attributed to sepsis, poor breast-feeding or neonatal asphyxia. Outcome is enhanced by diagnosis in the first ten days of life.
Treatment – Treatment options include low protein diets, carnitine or vitamin supplementation and avoidance of fasting. For treatment of all organic acidemia disorders, consultation with a metabolic specialist is strongly recommended.