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

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 acid...

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Bibliographic Details
Main Authors: Albina Tummolo, Livio Melpignano, Antonella Carella, Anna Maria Di Mauro, Elvira Piccinno, Marcella Vendemiale, Federica Ortolani, Stefania Fedele, Maristella Masciopinto, Francesco Papadia
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Journal of Medical Case Reports
Subjects:
Propionic acidemia
Hyperammonemia
N-carbamylglutamate
Long-term treatment
Online Access:http://link.springer.com/article/10.1186/s13256-018-1631-1

Internet

http://link.springer.com/article/10.1186/s13256-018-1631-1

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