Acute management of propionic acidemia

Abstract

Propionic Acidemia or aciduria is an intoxication-type disorder of organic metabolism. Patients deteriorate in times of increased metabolic demand and subsequent catabolism. Metabolic decompensation can manifest with lethargy, vomiting, coma and death if not appropriately treated. On January 28-30, 2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scientists and parental group representatives to design recommendations for acute management of individuals with Propionic Acidemia. Although many of the recommendations are geared towards the previously undiagnosed neonate, the recommendations for a severely metabolically decompensated individual are applicable to any known patient as well. Initial management is critical for prevention of morbidity and mortality. The following manuscript provides recommendations for initial treatment and evaluation, a discussion of issues concerning transport to a metabolic center (if patient presents to a non-metabolic center), acceleration of management and preparation for discharge.

Emerging trends in management of propionic acidemia

“…• Many PA patients were poor oral feeders. Nasogastric/gastrostomy (NG/G) tube feeding can be used to meet daily metabolic nutrition therapy goals when patients are anorexic, as it is often seen in PA (3,15). Our 20% children were exclusively on NG/G tube feeding.…”

“…• Screening studies, such as electrocardiogram, echocardiogram, hearing screening, and optic field assessment are regularly recommended in PA patients (3,15). Most of our patients were on regular follow-up, at the current/another centre.…”

“…A big portion of propionate (20-30%) is produced as food is metabolised by bacteria in the gut, which can be alleviated by using non-absorbable oral antibiotics, such as metronidazole/neomycin, which have been reported to be helpful in improving metabolic crises. Laxative agents, such as lactulose, increase gut motility and acidify the intestine, thus decreasing ammonia uptake (3,5,11). During decompensation, we used metronidazole in 7% admissions, and laxatives in 4%.…”

“…• Packed RBCs and other blood product transfusions are recommended if patients are anemic, immunocompromised or have bone marrow suppression (3,12). In this study, blood/Packed RBCs were transfused in 20% admissions, platelets in 18%, and fresh frozen plasma in 6%.…”

“…• Similar to our policy, parental education about the disease and management has also been considered to be crucial (3,12). • Some researchers have described the role of growth hormone to improve lean body mass and linear growth and to increase tolerance to natural proteins in PA patients (15).…”