Plasma arginine levels in arginase deficiency in the "real world".

ABSTRACT:

Background

Deficiency of arginase-1, the final enzyme in the urea cycle, causes a distinct clinical syndrome and is characterized biochemically by a high level of plasma arginine. While conventional therapy for urea cycle disorders can lower these levels to some extent, it does not normalize them. Until now, research on plasma arginine levels in this disorder has primarily relied on data from specialized tertiary centers, which limits the ability to assess the natural history and treatment efficacy of arginase-1 deficiency due to the small number of patients in each center and technical variations in plasma arginine measurements among different laboratories.

Method

In this study, we reported plasma arginine levels from 51 patients with arginase-1 deficiency in the database o

SUBMITTER: Tanpaiboon P 

PROVIDER: S-EPMC10787283 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature