During acute episodes, the treatment of infants with propionic acidemia may require fluid therapy; measures to provide appropriate nutritional intake (e.g., intravenous glucose, with and without intravenous lipids); administration of certain medications to prevent or treat bacterial infection; and other supportive measures as required. In infants with severe disease (e.g., severe acidosis, hyperammonemia), treatment may require procedures that remove excess waste products from the blood (hemodialysis). During hemodialysis, waste products are removed by filtering the blood through an artificial kidney machine. Peritoneal dialysis is a technique during which the peritoneum is used as a natural filtering membrane. (The peritoneum is the two-layered membrane that lines the abdominal wall and covers abdominal organs.). Injection of intravenous bicarbonate can also help reduce the acid load in the body. In addition, until the diagnosis is confirmed, physicians may completely eliminate protein from the newborn’s diet and may also administer biotin, a B complex vitamin that plays a role in the metabolism of certain fatty acids and amino acids.
Long-term treatment includes administration of a low-protein diet, possibly in combination with medical formula (medical foods) that are low in certain amino acids (i.e., amino acids which give rise to propionate, e.g., isoleucine, valine, threonine, and methionine). Infants and children with the disorder may develop secondary deficiency of carnitine, a substance that plays a role in metabolism and the proper use of fatty acids. In such cases, therapy includes administration of L-carnitine (carnitine or levocarnitine). Antibiotic therapy with metronidazole can reduce the burden of propionyl-CoA in the body, as this chemical is produced by some bacteria during fermentation of carbohydrates in our gut.) [4,9,31].
Liver transplant is a potential surgical option for individuals with severe symptoms and frequent recurrent acute episodes (decompensation). Liver recipients generally have a lower risk of decompensation and hospitalization. However, lifelong immunosuppressive therapy is necessary to prevent organ rejection [32-34]. All patients with propionic academia must be followed by dieticians with experience in providing care to metabolic patients.
Some children might need to be in special education classes, as intellectual disability is common with propionic academia.
Other treatment is symptomatic and supportive.
Genetic counseling is recommended for affected individuals and their families.