Argininemia and vitamin K-dependent coagulation factors deficiency: A case report and a brief review of the literature

Arginase deficiency (AD) is caused by an autosomal recessive mutation in the gene coding for arginase 1 (ARG1). The estimated prevalence of AD is 1 per 950,000 births, which corresponds to around 3  % of all urea cycle disorders (UCDs) (1). After birth, UCDs result in the accumulation of ammonia; this causes neurologic impairments, liver disorders, gastrointestinal tract problems, and psychiatric disorders (1–3). Relative to other UCDs, the signs of AD are milder and start to appear later (1–3). Low blood levels of vitamin K-dependent coagulation factors (VKCFD) like FVII, FIX, FX and protein C have been reported, and minor bleeding manifestations are sometimes present (4,5).

Source: Thrombosis Research - June 29, 2023 Category: Hematology Authors: Tasnim Bel Hadj, Val érie Li Thiao Te, Maïlys Le Guyader, Annelise Voyer, Charlotte Durand-Maugard, Antoine Galmiche, Loïc Garçon, Julien Demagny Tags: Letter to the Editors-in-Chief Source Type: research