A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Molecular Genetics and Metabolism Reports Pub Date : 2024-11-09 DOI:10.1016/j.ymgmr.2024.101158

Theodoros Georgiou , Olga Grafakou , Anna Malekkou , Emilia Athanasiou , Ioannis Ioannou , Vivi Choleva , Maria Dionysiou , Gabriella Mavrikiou , Anthi Demetriadou , Violetta Anastasiadou , Anthi Drousiotou , Petros P. Petrou

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Abstract

Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene. Five Cypriot patients (four males and one female) were diagnosed with a CblC defect. Age at diagnosis ranged from 10 days to 9 months. We present here the clinical, biochemical and molecular findings of these patients. Our retrospective study indicates that all patients were carriers of the known p.Arg91LysfsTer14 variant in either a homozygous or compound heterozygous state with other known MMACHC pathogenic variants. Out of three patients sharing the same genotype the one diagnosed and initiated treatment in the neonatal period displayed an improved clinical outcome.

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塞浦路斯 CblC 缺陷患者病例系列：临床、生化和分子特征

甲基丙二酸尿症和同型胱氨酸尿症（CblC 型）是一种细胞内维生素 B12（钴胺素）代谢的先天性错误，大多数病例是由 MMACHC 基因突变引起的。五名塞浦路斯患者（四男一女）被诊断出患有 CblC 缺陷。确诊时的年龄从 10 天到 9 个月不等。我们在此介绍这些患者的临床、生化和分子研究结果。我们的回顾性研究表明，所有患者都是已知p.Arg91LysfsTer14变异的携带者，他们要么是同源杂合状态，要么是与其他已知MMACHC致病变异的复合杂合状态。在三位具有相同基因型的患者中，一位在新生儿期就得到诊断并开始治疗，其临床预后有所改善。

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.