Propionic acidemia
Propionic Acidemia
Propionic acidemia (pronounced pro-pee-on-ic a-si-dee-mee-a), also known as PA, is a rare, inherited metabolic disorder that prevents the body from properly processing certain parts of proteins and lipids (fats).
Etymology
The term "Propionic acidemia" is derived from the chemical compound propionic acid, which accumulates in the blood of individuals with this disorder. The suffix "-emia" is derived from the Greek word "haima" meaning blood, indicating a condition of the blood.
Definition
Propionic acidemia is a type of organic acidemia. The primary feature of this condition is the build-up of propionic acid in the blood. This build-up can damage the nervous system and other parts of the body.
Symptoms
Symptoms of propionic acidemia may include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). In severe cases, complications such as heart abnormalities, seizures, and intellectual disability may occur.
Causes
Propionic acidemia is caused by mutations in the PCCA or PCCB genes. These genes provide instructions for making a protein that is essential for breaking down certain amino acids, the building blocks of proteins.
Diagnosis
Diagnosis of propionic acidemia is based on the detection of abnormal levels of certain substances in the blood and urine that suggest a problem with the metabolism of amino acids. Genetic testing can confirm the diagnosis.
Treatment
Treatment for propionic acidemia is focused on managing the symptoms and preventing metabolic crises. This may involve a special diet, medications, and in some cases, liver transplantation.
Prognosis
The prognosis for individuals with propionic acidemia varies. Some individuals have severe symptoms and may not survive past early childhood, while others have milder forms of the disorder and live into adulthood.
See Also
External links
- Medical encyclopedia article on Propionic acidemia
- Wikipedia's article - Propionic acidemia
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