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Diseases

Genetic and Rare Diseases Information Center (GARD)

Propionic acidemia


Other Names for this Disease
  • Propionyl-CoA carboxylase deficiency
  • PCC deficiency
  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic hyperglycinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Propionic acidemia is an inherited condition that occurs when the body is unable to process certain parts of proteins and lipids (fats) properly. As a result, abnormal levels of toxic substances build up in the blood and tissues, which can cause serious health problems. Signs and symptoms of the condition generally develop within the firsts few days after birth and may include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). Without early diagnosis and treatment, these symptoms may progress to more serious medical problems, such as heart abnormalities, seizures, coma, and possibly death. Propionic acidemia is caused by changes (mutations) in the PCCA and PCCB genes and is inherited in an autosomal recessive manner.[1] Treatment generally includes a special diet and addressing symptoms during a metabolic crisis.[2]
Last updated: 12/2/2015

References

  1. Propionic acidemia. Genetics Home Reference. July 2007; http://ghr.nlm.nih.gov/condition/propionic-acidemia.
  2. Karl S Roth. Genetics of Propionic Acidemia (Propionyl CoA Carboxylase Deficiency). Medscape Reference. November 2014; http://emedicine.medscape.com/article/948084-overview.
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Basic Information

  • Baby's First Test offers an information page on Propionic acidemia. Please click the link to access this resource.
  • Genetics Home Reference (GHR) contains information on Propionic acidemia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The New England Consortium of Metabolic Program has written medical guidelines called acute care protocols for Propionic acidemia for health care professionals. 
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Propionic acidemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Propionyl-CoA carboxylase deficiency
  • PCC deficiency
  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic hyperglycinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.