Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency

Author:

Demir Köse Melis1,Colak Ruya2,Yangin Ergon Ezgi2,Kulali Ferit2,Yildiz Meral2,Alkan Senem2,Atilgan Taner3,Aslan Fatma4,Brown Ruth5,Brown Garry5,Serdaroğlu Erkin4,Çalkavur Sebnem2

Affiliation:

1. Izmir Katip Çelebi University School of Medicine, Department of Pediatrics, Division of Inborn Errors of Metabolism, Izmir, Turkey

2. Behçet Uz Children Training & Research Hospital, Neonatology Department, Izmir, Turkey

3. Pamukkale University Medical Faculty, Neonatology Department, Denizli, Turkey

4. Behçet Uz Children Training & Research Hospital, Nephrology Department, Izmir, Turkey

5. Oxford University Hospitals NHS Foundation Trust, Oxford Medical Genetics Laboratories, Oxford, UK

Abstract

AbstractPyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD) treatments were applied due to the failure to keep hyperammonemia and lactic acidosis under control. Ammonia values increasing to 860 μmol/L were observed. A homozygous novel variant was detected in PC gene analyses containing a 12-base pair deletion on exon 8. Although the mutation found was not reported previously, it was accepted as a pathogenic variant due to its presence in a functional region of the protein. In type B PC deficiency, although a high level of ammonia is expected, it rarely exceeds 200 μmol/L. As far as we know, the present case has the highest ammonia values in the literature. This paper has been shared to highlight to keep PC deficiency in mind regarding the differential diagnosis of hyperammonemia, particularly in the presence of lactic acidosis, and to serve as a model for the use of different modalities in the management process of PC deficiency.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference40 articles.

1. A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine;Dev Med Child Neurol,1981

2. Novel mutations in the PC Gene in patients with Type B pyruvate carboxylase deficiency;JIMD Rep,2013

3. Hyperammonemia-induced toxicity for the developing central nervous system;Brain Res Rev,2007

4. Neonatal extracorporeal renal replacement therapy-a routine renal support modality?;Pediatr Nephrol,2016

5. Inhibitory effect of intravenous lysine infusion on urea cycle metabolism;Eur J Pediatr,1987

Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3