Open AccessHyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children
Author(s) -
Anasufiza Habib,
Norashareena Mohamed Shakrin
Publication year - 2022
Publication title -
clinical pathology
Language(s) - English
Resource type - Journals
ISSN - 2632-010X
DOI - 10.1177/2632010x221093274
Subject(s) - arginase , urea cycle , orotic acid , medicine , pediatrics , arginine , urine , physiology , gastroenterology , endocrinology , biochemistry , biology , amino acid
Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia and hyperexcretion of orotic acid. The aim of our study is to review the clinical and biochemical presentations of 4 children diagnosed with Arginase 1 deficiency in Malaysia and compare with the literature review.Design and Methods: We retrospectively reviewed the medical records of 4 patients with molecularly confirmed Arginase 1 deficiency. Patients were identified from a selective high-risk screening of 51 682 symptomatic patients from January 2006 to December 2020.Results: Our patients exhibited heterogeneous clinical presentations with acute and progressive neurological abnormalities and varying degrees of plasma arginine and urine orotic acid excretions. Interestingly, an unusual hyperexcretion of homocitrulline was found in 3 patients.Conclusions: Hyperargininemia due to Arginase 1 deficiency can present acutely and hyperexcretion of homocitrulline can be an additional biochemical feature of Arginase 1 deficiency.