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Genetic and Rare Diseases Information Center (GARD)

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Propionic acidemia


Other Names for this Disease

  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic glycinemia
  • Ketotic hyperglycinemia
  • PCC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My cousin has been treated since birth for propionic acidemia. She has not responded to treatment and has experienced many side-effects. What treatments are available for this condition? What is the prognosis?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is propionic acidemia?

Propionic acidemia is an organic acid disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly, and abnormal levels of propionic acid build up in the blood and tissues. The levels are toxic and cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth and 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. It is caused by mutations in the PCCA and PCCB genes, which provide instructions for making a certain enzyme needed to break down proteins. It is inherited in an autosomal recessive pattern.[1] Treatment is life-long and involves appropriate dietary management (to limit intake of certain amino acids) and addressing symptoms during a metabolic crisis.[2]
Last updated: 3/30/2011

How might propionic acidemia be treated?

Appropriate dietary management is the mainstay of treatment. Several commercially produced formulas are available that provide a protein supplement without any of the 4 amino acids that result in propionate production.[2][3] However, since these amino acids are essential for human development, closely monitored quantities will need to be added. This should be done with the guidance of a biochemical geneticist and a nutritionist.[2] Some physicians recommend oral biotin or carnitine supplementation, although more research is needed to determine the effectiveness of these treatments.[2][3]  
Last updated: 3/30/2011

What is the prognosis for individuals with propionic acidemia?

Babies who receive prompt and ongoing treatment before they experience a metabolic crisis may have normal growth and development. The outcome is generally better with early treatment. However, some children have life-long learning problems, cognitive deficiency, seizures, or problems with involuntary movements, even with treatment.[3] Children with a classic presentation and course generally have a guarded prognosis. In severe cases, survival may be threatened, particularly in the presence of severe brain damage.[4]
Last updated: 3/30/2011

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