Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

IF 1.9 Q3 PATHOLOGY Clinical Pathology Pub Date : 2022-01-01 DOI:10.1177/2632010x221093274
A. Habib, Norashareena Mohamed Shakrin
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Abstract

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.
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精氨酸酶1缺乏引起的高精氨酸血症:马来西亚儿童临床和生化表现的变异性
目的:精氨酸酶1缺乏引起的高精氨酸血症是一种罕见的先天性尿素循环错误,发生率约为1:95 000。它具有典型的严重和进行性神经系统异常特征,生化表现为高精氨酸血症和山茱萸酸高排泄。我们研究的目的是回顾马来西亚诊断为精氨酸酶1缺乏症的4名儿童的临床和生化表现,并与文献综述进行比较。设计与方法:我们回顾性分析了4例分子证实精氨酸酶1缺乏症患者的病历。从2006年1月至2020年12月对51 682例有症状的患者进行选择性高风险筛查。结果:我们的患者表现出不同的临床表现,急性和进行性神经异常,不同程度的血浆精氨酸和尿乳酸酸排泄。有趣的是,在3例患者中发现了异常的高瓜氨酸排泄。结论:精氨酸酶1缺乏症引起的高精氨酸血症可急性出现,高精氨酸排泄可能是精氨酸酶1缺乏症的另一个生化特征。
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来源期刊
Clinical Pathology
Clinical Pathology PATHOLOGY-
CiteScore
2.20
自引率
7.70%
发文量
66
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