Propionic acidemia
| Disorder | |
|---|---|
| OMIM #: | #606054 (Click to access OMIM database) |
| Disorder: | Propionic acidemia |
| Also known as: | Propionyl-CoA carboxylase deficiency PCC deficiency Glycinemia, ketotic Hyperglycinemia with ketoacidosis and leukopenia Ketotic hyperglycinemia |
| Clinical | |
| Phenotype: | First symptoms appear in infancy; lethargy, hypotonia, failure to thrive, vomiting, encephalopathy, cerebral atrophy, elevated propionate Acute exacerbations occur with infections and increased protein intake; metabolic acidosis, hyperglycinemia, hyperglycinuria, hyperammonemia. If protein intake is not restricted severe symptoms occur; seizures, coma, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |