Pipecolic acidemia
Pipecolic Acidemia
Pipecolic acidemia (pronounced as pipe-co-lic acid-em-ia), also known as hyperpipecolic acidemia or hyperpipecolatemia, is a rare metabolic disorder characterized by the accumulation of a substance called pipecolic acid in the blood.
Etymology
The term "Pipecolic acidemia" is derived from the chemical compound "Pipecolic acid" and the Greek word "haima" meaning blood. The term "acidemia" refers to an abnormal acidity of the blood.
Definition
Pipecolic acidemia is a condition that primarily affects the nervous system, leading to a variety of neurological symptoms. It is caused by the body's inability to properly break down a specific amino acid called lysine, leading to an excess of a byproduct known as pipecolic acid.
Symptoms
Symptoms of pipecolic acidemia can vary widely, but often include developmental delay, seizures, and issues with muscle tone. Some individuals may also experience liver disease or peripheral neuropathy.
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. Mutations in the ALDH6A1 gene disrupt this process, leading to the accumulation of pipecolic acid.
Diagnosis
Diagnosis of pipecolic acidemia is typically made through biochemical testing, including plasma amino acid analysis and urine organic acid analysis. Genetic testing can also be used to confirm the diagnosis.
Treatment
Treatment for pipecolic acidemia is primarily supportive and focuses on managing the symptoms. This may include medications to control seizures, physical therapy to improve muscle tone, and special education services to address developmental delays.
Prognosis
The prognosis for individuals with pipecolic acidemia varies depending on the severity of symptoms and the individual's response to treatment.
See Also
External links
- Medical encyclopedia article on Pipecolic acidemia
- Wikipedia's article - Pipecolic acidemia
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