Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Synonyms

31 entry terms
  • Acidemia Propionic
  • Glycinemia, Ketotic
  • Hyperglycinemia With Ketoacidosis And Leukopenia
  • Ketotic Glycinemia
  • Ketotic Hyperglycinemia
  • PCC Deficiency
  • Propionicacidemia
  • Propionyl-CoA Carboxylase Deficiency
  • Acidemia Propionics
  • Acidemia, 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, Acidemia
  • Propionicacidemias
  • Propionyl CoA Carboxylase Deficiency
  • Propionyl-CoA Carboxylase Deficiencies
  • Propionic Aciduria
  • Propionicaciduria
  • Aciduria, Propionic
  • Propionic Acidurias
  • Propionicacidurias

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Record

Previous Indexing

  • Methylmalonyl-CoA Decarboxylase (1981-2009)

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.100.823w
  2. C18.452w.648w.100.823w

AMA Style

References

  1. National Library of Medicine. Propionic Acidemia. Medical Subject Headings (MeSH). 2026. Unique ID D056693. http://id.nlm.nih.gov/mesh/2026/D056693
  2. Propionic Acidemia. In: Wikipedia. https://en.wikipedia.org/wiki/Propionic_acidemia
  3. Propionic Acidemia. In: Wikidata. https://www.wikidata.org/wiki/Q7250337