Propionic Acidemia

Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.

Also Known As:

Acidemia Propionic; Hyperglycinemia With Ketoacidosis And Leukopenia; Propionic Aciduria; Propionicaciduria; Acidemia Propionics; Acidemia, Propionic; Aciduria, Propionic; Carboxylase Deficiencies, Propionyl-CoA; Carboxylase Deficiency, Propionyl-CoA; Deficiencies, Propionyl-CoA Carboxylase; Deficiency, PCC; Deficiency, Propionyl-CoA Carboxylase; Glycinemias, Ketotic; Hyperglycinemia, Ketotic; Hyperglycinemias, Ketotic; Ketotic Glycinemias; Ketotic Hyperglycinemias; PCC Deficiencies; Propionic Acidemias; Propionic Acidurias; Propionic, Acidemia; Propionicacidemias; Propionicacidurias; Propionyl CoA Carboxylase Deficiency; Propionyl-CoA Carboxylase Deficiencies; Glycinemia, Ketotic; Ketotic Glycinemia; Ketotic Hyperglycinemia; PCC Deficiency; Propionicacidemia; Propionyl-CoA Carboxylase Deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Propionic Acidemia: 498
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Propionic Acidemia: 498

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