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