Synonym(s): - Ketotic hyperglycinemia - Propionic aciduria - Propionyl-CoA carboxylase deficiency
Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: D056693
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
PCCA	P05165	232000
PCCB	P05166	232050

- Aminoacid metabolism anomalies / aminoaciduria
- Constipation
- Hyperammonemia
- Hypoglycemia

- Cardiac rhythm disorder / arrhythmia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability

- Cardiomyopathy / hypertrophic / dilated