My cousin has been treated since birth for propionic acidemia. She has not responded to treatment and has experienced many side-effects. What treatments are available for this condition? What is the prognosis?
Propionic acidemia is an inherited condition that occurs when the body is unable to process certain parts of proteins and lipids (fats) properly. As a result, abnormal levels of toxic substances build up in the blood and tissues, which can cause serious health problems. Signs and symptoms of the condition generally develop within the firsts few days after birth and may include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). Without early diagnosis and treatment, these symptoms may progress to more serious medical problems, such as heart abnormalities, seizures, coma, and possibly death. Propionic acidemia is caused by changes (mutations) in the PCCA and PCCB genes and is inherited in an autosomal recessive manner. Treatment generally includes a special diet and addressing symptoms during a metabolic crisis.
Last updated: 12/2/2015
How might propionic acidemia be treated?
Appropriate dietary management is the main treatment for propionic acidemia. It is recommended that individuals with propionic acidemia consume a low-protein diet. This helps prevent a metabolic crisis. Several commercially produced formulas are available that provide a protein supplement without any of the 4 amino acids that result in propionate production. However, since these amino acids are essential for human development, closely monitored quantities will need to be added. This should be done with the guidance of a biochemical geneticist and a nutritionist. Some physicians recommend oral biotin or carnitine supplementation, although more research is needed to determine the effectiveness of these treatments. It is also important for individuals with propionic acidemia to avoid going a long time without food (fasting). Fasting may cause a metabolic crisis. Children who are having symptoms of a metabolic crisis should be treated in the hospital where they may be given medications such as bicarbonate or glucose.
Last updated: 12/22/2015
What is the prognosis for individuals with propionic acidemia?
Babies who receive prompt and ongoing treatment before they experience a metabolic crisis may have normal growth and development. The outcome is generally better with early treatment. However, some children have life-long learning problems, cognitive deficiency, seizures, or problems with involuntary movements, even with treatment. Children with a classic presentation and course generally have a guarded prognosis, meaning they are typically stable but there is a potential for serious issues, especially if they have a metabolic crisis. In severe cases, survival may be threatened, particularly in the presence of severe brain damage.
Last updated: 12/22/2015
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please