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Propionic acidemia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Propionic acidemia

Propionic acidemia is an inherited organic acid disorder that prevents the body from properly processing certain proteins and fats, leading to a toxic buildup of organic acids.

Description

Propionic acidemia is an inherited disorder where the body cannot process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, leading to an abnormal buildup of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues, which can be toxic.

In most cases, symptoms appear within a few days after birth, including:

  • Poor feeding
  • Vomiting
  • Loss of appetite
  • Weak muscle tone (hypotonia)
  • Lack of energy (lethargy)

These symptoms can progress to serious complications such as heart abnormalities, seizures, coma, and potentially death.

In less common, later-onset forms, symptoms may appear during childhood and fluctuate. Affected children may experience intellectual disability or delayed development. Serious episodes can be triggered by fasting, fever, or infections.

Frequency

Propionic acidemia affects approximately 1 in 100,000 people in the United States. It is more common in specific populations, including the Inuit of Greenland, some Amish communities, and Saudi Arabians.

Causes

Mutations in the PCCA and PCCB genes cause this condition. These genes provide instructions for making subunits of the enzyme propionyl-CoA carboxylase. This enzyme is essential for breaking down certain amino acids, fats, and cholesterol. When the enzyme is dysfunctional, propionyl-CoA and other harmful compounds accumulate to toxic levels, damaging the brain and nervous system.

Genes Associated with Propionic Acidemia

  • PCCA
  • PCCB

Inheritance

This condition is inherited in an autosomal recessive pattern. Both copies of the gene in each cell must have mutations for the disorder to occur. Parents of an affected individual each carry one copy of the mutated gene but typically remain asymptomatic.

Other Names

  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic glycinemia
  • Ketotic hyperglycinemia
  • PCC deficiency
  • PROP
  • Propionyl-CoA carboxylase deficiency

Frequently Asked Questions

Maintain a strict feeding schedule—never allow more than 8‑10 hours without calories. During illness, give extra carbohydrate‑rich fluids (e.g., oral rehydration solution with glucose) and follow the family’s emergency protocol, which often includes a prescribed “sick‑day” formula low in propiogenic amino acids. Prompt treatment of fever or infection also reduces stress on metabolism.
Call emergency services or go to the nearest emergency department. Treatment typically starts with an IV infusion of dextrose (10‑20% glucose) to suppress catabolism, cessation of protein and odd‑chain fatty acid intake, and administration of intravenous carnitine. Some centers also give sodium bicarbonate to correct acidosis and may use ammonia‑scavenging drugs if needed.
low‑protein diet that limits propiogenic amino acids (isoleucine, valine, methionine, threonine) is essential. This is achieved with specialized medical formulas (e.g., Propimex, or other low‑protein amino‑acid mixtures) plus measured portions of natural protein. Odd‑chain fatty acids (found in dairy fat and certain oils) are also limited. A registered metabolic dietitian should tailor the plan and adjust it as the child grows.
Carrier couples can pursue prenatal diagnosis via chorionic villus sampling or amniocentesis to test for the specific mutations. Preimplantation genetic testing for monogenic disorders (PGT‑M) with in‑vitro fertilization allows selection of embryos without the disease‑causing variants. Genetic counseling is recommended to discuss risks, success rates, and ethical considerations.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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