Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-05-09 DOI:10.1016/j.ymgmr.2025.101224

Jesse Zhen Cheng Lee , Chit Kwong Chow , Cheuk-Wing Fung , Stephen Tak Yau Lui , Suet-Na Sheila Wong

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Abstract

Pyridoxamine 5-phosphate oxidase (PNPO) deficiency is an autosomal recessive inborn error of metabolism that typically manifests as seizures resistant to conventional anticonvulsants, often presenting in the neonatal period to early infancy. One of the main treatments, pyridoxal 5-phosphate (PLP), carry a risk of liver toxicity. Concerns about liver toxicity have emerged not only with high doses of PLP but also with lower doses, prompting further investigation into the relationship between PLP treatment and liver complications in patients with PNPO deficiency. This report presents the first case report of hepatocellular carcinoma (HCC) in a patient with PNPO deficiency receiving PLP Pyridoxamine 5-phosphate oxidase (PNPO), identified before reaching teenager. This case underscores the importance of regular liver function monitoring for patients on long-term PLP therapy, suggesting a potential association between PLP treatment and the development of HCC, which has significant implications for clinical management strategies.

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病例报告：肝细胞癌患者吡哆沙胺5-磷酸氧化酶（PNPO）缺乏症接受5-磷酸吡哆醛（PLP）治疗

Pyridoxamine 5-phosphate oxidase （PNPO）缺乏症是一种常染色体隐性遗传的先天性代谢错误，通常表现为癫痫发作对常规抗惊厥药物的抵抗，通常出现在新生儿期至婴儿期早期。其中一种主要的治疗方法是吡哆醛5-磷酸（PLP），有肝毒性的风险。对肝毒性的担忧不仅出现在高剂量的PLP上，也出现在低剂量的PLP上，这促使人们进一步研究PLP治疗与PNPO缺乏症患者肝脏并发症之间的关系。本报告报道了首例PNPO缺乏症患者接受PLP吡哆胺5-磷酸氧化酶（PNPO）治疗后发生肝细胞癌（HCC）的病例，该患者在青少年前被发现。该病例强调了长期PLP治疗患者定期肝功能监测的重要性，表明PLP治疗与HCC发展之间存在潜在关联，这对临床管理策略具有重要意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.