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.
Year introduced: 2010
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Subheadings:
Tree Number(s): C16.320.565.100.823, C18.452.648.100.823
MeSH Unique ID: D056693
Entry Terms:
- Acidemia, Propionic
- Propionic Acidemias
- Propionyl-CoA Carboxylase Deficiency
- Carboxylase Deficiencies, Propionyl-CoA
- Carboxylase Deficiency, Propionyl-CoA
- Deficiencies, Propionyl-CoA Carboxylase
- Deficiency, Propionyl-CoA Carboxylase
- Propionyl-CoA Carboxylase Deficiencies
- Propionyl CoA Carboxylase Deficiency
- Acidemia Propionic
- Acidemia Propionics
- Propionic, Acidemia
- Glycinemia, Ketotic
- Glycinemias, Ketotic
- Ketotic Glycinemias
- Hyperglycinemia With Ketoacidosis And Leukopenia
- Ketotic Glycinemia
- Ketotic Hyperglycinemia
- Hyperglycinemia, Ketotic
- Hyperglycinemias, Ketotic
- Ketotic Hyperglycinemias
- Propionicacidemia
- Propionicacidemias
- PCC Deficiency
- Deficiency, PCC
- PCC Deficiencies
- Propionicaciduria
- Propionicacidurias
- Propionic Aciduria
- Aciduria, Propionic
- Propionic Acidurias
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