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Article

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

Journal of clinical pharmacy and therapeutics - 1 Feb 2018

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

Abstract excerpt

WHAT IS KNOWN AND OBJECTIVE: Carglumic 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...

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Source

Identifiers

PMID: 28741715
DOI: 10.1111/jcpt.12593

Genes

ASS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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