What is Propionic Acidemia

Propionic Acidemia is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by a deficiency of the enzyme propionyl-CoA carboxylase, which is responsible for metabolizing propionic acid.

Symptoms: Infants with propionic acidemia may experience poor feeding, vomiting, dehydration, and lethargy. As the condition progresses, it can lead to developmental delays, intellectual disability, seizures, and organ damage.

Diagnosis: Propionic acidemia is typically diagnosed through newborn screening tests or when symptoms become apparent. Genetic testing can confirm the presence of mutations in the PCCA or PCCB genes.

Treatment: There is currently no cure for propionic acidemia, but management focuses on controlling symptoms and preventing complications. This involves a strict low-protein diet, special formulas, and supplements. Some individuals may require medications to help manage symptoms.

Prognosis: The prognosis for propionic acidemia varies depending on the severity of the condition and how early it is diagnosed. With early intervention and proper management, some individuals can lead relatively normal lives, while others may experience significant health challenges.

Support: It is important for individuals with propionic acidemia and their families to seek support from medical professionals, genetic counselors, and patient advocacy groups. These resources can provide valuable information, guidance, and emotional support.