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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Propionic acidemia

Reviewed July 2007

What is propionic acidemia?

Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.

In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death.

Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.

How common is propionic acidemia?

Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland, some Amish communities, and Saudi Arabians.

What genes are related to propionic acidemia?

Mutations in the PCCA and PCCB genes cause propionic acidemia.

The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the building blocks of proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.

Related Gene(s)

Changes in these genes are associated with propionic acidemia.

  • PCCA
  • PCCB

How do people inherit propionic acidemia?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of propionic acidemia?

These resources address the diagnosis or management of propionic acidemia and may include treatment providers.

  • Baby's First Test (
  • Gene Review: Organic Acidemias Overview (
  • Gene Review: Propionic Acidemia (
  • Genetic Testing Registry: Propionic acidemia (

You might also find information on the diagnosis or management of propionic acidemia in Educational resources and Patient support.

General information about the diagnosis ( and management ( of genetic conditions is available in the Handbook. Read more about genetic testing (, particularly the difference between clinical tests and research tests (

To locate a healthcare provider, see How can I find a genetics professional in my area? ( in the Handbook.

Where can I find additional information about propionic acidemia?

You may find the following resources about propionic acidemia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for propionic acidemia?

  • hyperglycinemia with ketoacidosis and leukopenia
  • ketotic glycinemia
  • ketotic hyperglycinemia
  • PCC deficiency
  • PROP
  • propionicacidemia
  • propionyl-CoA carboxylase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines ( and How are genetic conditions and genes named? ( in the Handbook.

What if I still have specific questions about propionic acidemia?

Ask the Genetic and Rare Diseases Information Center (

What glossary definitions help with understanding propionic acidemia?

acids ; aciduria ; amino acid ; autosomal ; autosomal recessive ; breakdown ; carboxylase ; cell ; cholesterol ; CoA ; coma ; deficiency ; disability ; enzyme ; fasting ; fever ; gene ; hypotonia ; inherited ; lethargy ; metabolism ; muscle tone ; nervous system ; newborn screening ; organic acid ; population ; recessive ; screening ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr. 2007 Feb;150(2):192-7, 197.e1. (
  • Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. Review. (
  • Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M. Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. Review. (
  • Feliz B, Witt DR, Harris BT. Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003 Aug;127(8):e325-8. Review. (
  • Gene Review: Organic Acidemias Overview (
  • Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila). 2004 Nov-Dec;43(9):837-43. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: July 2007
Published: February 8, 2016