Propionic acidemia

What is the cause of propionic acidemia?

Propionic acidemia is caused by changes in the PCCA and PCCB genes.

Last updated on 05-01-20

How is propionic acidemia diagnosed?

Propionic acidemia can be diagnosed through newborn screening. Almost every state in the United States screens for this disorder. Additional testing required for diagnosis may include:

  • Biochemical testing for abnormal levels of specific chemicals
  • Genetic testing for mutations in either the PCCA or PCCB gene

Last updated on 05-01-20

How is propionic acidemia inherited?

Propionic acidemia is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. To have propionic acidemia, a person must have a mutation in both copies of either the PCCA or PCCB gene.

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to have the disorder
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for individuals with propionic acidemia?

The long-term outcome in propionic acidemia varies from person to person. In general, early diagnosis and treatment, especially before a decompensation event occurs, is associated with a better outcome. Some children have life- long learning problems, intellectual disability, seizures, or problems with involuntary movements, even with treatment. Other possible long- term complications can include poor growth, kidney failure, and liver problems.

Last updated on 05-01-20

How many people have propionic acidemia?

It is estimated that between about 1/105,000-1/240,000 babies are born with propionic acidemia in the United States.

Last updated on 05-01-20

How might propionic acidemia be treated?

There is no specific treatment for propionic acidemia. Treatment is focused on managing the symptoms. Options include:

  • Aggressive treatment of decompensation events
  • Special protein managed diet
  • Medications such as carnitine
  • Avoidance of stressors (such as fasting or illness) that can lead to a decompensation event
  • Liver transplant in some cases

Specialists that may be involved in the care of people with propionic acidemia include :

  • Nutritionist
  • Genetics professional
  • Developmental specialist
  • Neurologist
  • Physical therapist and occupational therapist

Last updated on 05-01-20

In-Depth Information

New England Consortium of Metabolic Program

The New England Consortium of Metabolic Program has written medical guidelines called acute care protocols for Propionic acidemia for health care professionals.

Last updated on 04-27-20

Management Guidelines

PubMed Central website

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et. al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014 Sep 2;9:130.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: Organic Acidemia Association 9040 Duluth Street
Golden Valley, MN, 55427, United States
Phone: 763-559-1797 Fax : 866-539-4060 Email: Url:
Name: Propionic Acidemia Foundation 1963 McCraren Rd.
Highland Park, IL, 60035, United States
Toll Free: 877-720-2192 Email: Url:
Jurecki E, Ueda K, Frazier D, Rohr F, Thompson A, et al.. Nutrition management guideline for propionic acidemia: An evidence- and consensus- based approach Mol Genet Metab. Apr 2019; 126(4). 341-354. Reference Link Almasi T, Guey LT, Lukas C, Csetneki K, Voko Z, Zelei T. Systematic literature review and meta-analysis on the epidemiology of propionic acidemia Orphanet Jl of Rare Dis. Feb 13, 2019; 14(1). 40. Reference Link Haijes HA, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Pathophysiology of propionic and methylmalonic acidemias. Pt 2: Treatment strategies J Inherit Metab Dis. Sept 2019; 42(5). 745-761. Reference Link Haijes HA, Jans JJM, Tas SY, Verhoeven-Duif NM, van Hasselt PM. Pathophysiology of propionic and methylmalonic acidemias. Pt 1: Complications J Inherit Metab Dis. Sept 2019; 42(5). 730-744. Reference Link Shchelochkov OA, Carrillo N and Venditti C. Propionic Acidemia GeneReviews. Updated Oct 2016; Reference Link Fraser JL, Venditti CP. Methylmalonic and Propionic acidemias: Clinical management and update Curr Opin Pediatr. Dec 2016; 28(6). 682-693. Reference Link Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, et al. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening J Inherit Metab Dis. Dec 11, 2019; Epub ahead of print. Reference Link

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