Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay.
In this study, 10 cases diagnosed with this disorder from 2002 to 2012 in the pediatric neurology department of Mofid Hospital in Tehran, after recording age, sex, developmental status, clinical findings and imaging and neurometabolic studies were further evaluated.
We found that 70% of these cases were the result of a consanguineous marriage. 30% had a head circumference and weight less than the 3rd percentile. We also found that the prognosis for patients with an early diagnosis and management was much more favorable.