Pipecolic acidemia

Pipecolic acidemia is a rare metabolic disorder characterized by the abnormal accumulation of a substance known as pipecolic acid in the body's cells and tissues. This condition is classified as an organic acidemia and is typically diagnosed in infancy or early childhood.

Symptoms

The symptoms of pipecolic acidemia can vary widely among affected individuals. Common symptoms include developmental delay, seizures, hypotonia (low muscle tone), and hepatomegaly (enlarged liver). Some individuals may also exhibit microcephaly (small head size), failure to thrive, and intellectual disability.

Causes

Pipecolic acidemia is caused by mutations in the ALDH6A1 gene. This gene provides instructions for making an enzyme that is involved in the breakdown of lysine, an amino acid. Mutations in the ALDH6A1 gene disrupt the normal breakdown of lysine, leading to the accumulation of pipecolic acid.

Diagnosis

Diagnosis of pipecolic acidemia is typically made through biochemical genetic testing, which can detect elevated levels of pipecolic acid in the body. Molecular genetic testing can also be used to identify mutations in the ALDH6A1 gene.

Treatment

There is currently no cure for pipecolic acidemia. Treatment is symptomatic and supportive, and may include dietary management, physical therapy, and medications to manage seizures.

Prognosis

The prognosis for individuals with pipecolic acidemia varies depending on the severity of symptoms and the individual's response to treatment. With appropriate management, some individuals may live into adulthood.

See also

• Organic acidemia
• Metabolic disorder
• ALDH6A1
• Lysine

NIH genetic and rare disease info

• NIH info on Pipecolic acidemia

Pipecolic acidemia is a rare disease.