First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency)


Kose E., Kuyum P., Aksoy B., Haberle J., Arslan N., Ozturk Y.

JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS, vol.43, no.1, pp.124-128, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.1111/jcpt.12593
  • Journal Name: JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.124-128
  • Keywords: argininosuccinate synthetase deficiency, carglumic acid, citrullinemia type 1, hyperammonaemia, INDUCED HYPERAMMONEMIA, N-CARBAMYLGLUTAMATE
  • Dokuz Eylül University Affiliated: Yes

Abstract

What is known and objectiveCarglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase 1 deficiency.