Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.

ABSTRACT:

Background

Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. The effects of long-term continuous N-acetylglutamate administration in such patients are unknown. We report our clinical experience with continuous administration of N-acetylglutamate for 6 years in a patient with propionic acidemia frequently presenting with hyperammonemia.

Case presentation

A male Caucasian patient with frequently decompensated propionic acidemia and hyperammonemia was admitted 78 times for acute attacks during the first 9 years of his life. Continuous daily treat

SUBMITTER: Tummolo A 

PROVIDER: S-EPMC5911373 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature