Propionic Acidaemia

What is propionic acidaemia?

Propionic acidaemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats) properly. The condition, which usually appears in early infancy, is characterised by poor feeding, vomiting, weak muscle tone (hypotonia), and lethargy. The effects of propionic acidaemia can be life-threatening.

How common is propionic acidaemia?

Propionic acidaemia occurs in about 1 in 100,000 live births in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland and Saudi Arabians.

What genes are related to propionic acidaemia?

Mutations in the PCCA and PCCB genes cause propionic acidaemia.

The PCCA and PCCB genes make protein subunits that come together to form an enzyme called propionyl-CoA carboxylase. This enzyme is responsible for one step in the normal breakdown of several amino acids (the building blocks of proteins), certain lipids, and cholesterol. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially toxic compounds can accumulate in the body, causing the signs and symptoms of propionic acidaemia.

How do people inherit propionic acidaemia?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for propionic acidaemia?

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

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