NLM Logo

Propionic Acidemia MeSH Descriptor Data 2023


MeSH Heading
Propionic Acidemia
Tree Number(s)
C16.320.565.100.823
C18.452.648.100.823
Unique ID
D056693
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056693
Scope Note
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.
Entry Term(s)
Acidemia Propionic
Glycinemia, Ketotic
Hyperglycinemia With Ketoacidosis And Leukopenia
Ketotic Glycinemia
Ketotic Hyperglycinemia
PCC Deficiency
Propionic Aciduria
Propionicacidemia
Propionicaciduria
Propionyl-CoA Carboxylase Deficiency
Previous Indexing
Methylmalonyl-CoA Decarboxylase (1981-2009)
See Also
Methylmalonyl-CoA Decarboxylase
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2013/07/08
Propionic Acidemia Preferred
Propionicaciduria Narrower
page delivered in 0.165s