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.

Descriptor ID	D056693
MeSH Number(s)	C16.320.565.100.823 C18.452.648.100.823
Concept/Terms	Propionic Acidemia Propionic Acidemia Acidemia, Propionic Acidemias, Propionic Propionic Acidemias Propionicacidemia Propionicacidemias Propionyl-CoA Carboxylase Deficiency Carboxylase Deficiencies, Propionyl-CoA Carboxylase Deficiency, Propionyl-CoA Deficiencies, Propionyl-CoA Carboxylase Deficiency, Propionyl-CoA Carboxylase Propionyl CoA Carboxylase Deficiency Propionyl-CoA Carboxylase Deficiencies Ketotic Glycinemia Ketotic Hyperglycinemia Hyperglycinemia, Ketotic Hyperglycinemias, Ketotic Ketotic Hyperglycinemias Glycinemia, Ketotic Glycinemias, Ketotic Ketotic Glycinemias PCC Deficiency Deficiencies, PCC Deficiency, PCC PCC Deficiencies Hyperglycinemia With Ketoacidosis And Leukopenia Propionicaciduria Propionicaciduria Propionicacidurias Propionic Aciduria Aciduria, Propionic Acidurias, Propionic Propionic Acidurias

Below are MeSH descriptors whose meaning is more general than "Propionic Acidemia".

Below are MeSH descriptors whose meaning is related to "Propionic Acidemia".

Below are MeSH descriptors whose meaning is more specific than "Propionic Acidemia".