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

Kose E., Kuyum P., Aksoy B., Häberle J., Arslan N., Öztürk Y.

JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS, cilt.43, sa.1, ss.124-128, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1111/jcpt.12593
  • Dergi Adı: JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.124-128
  • Anahtar Kelimeler: argininosuccinate synthetase deficiency, carglumic acid, citrullinemia type 1, hyperammonaemia, INDUCED HYPERAMMONEMIA, N-CARBAMYLGLUTAMATE
  • Ankara Üniversitesi Adresli: Hayır

Özet

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.