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
{"title":"塞浦路斯 CblC 缺陷患者病例系列：临床、生化和分子特征","authors":"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","doi":"10.1016/j.ymgmr.2024.101158","DOIUrl":null,"url":null,"abstract":"<div><div>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 <em>MMACHC</em> 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 <em>MMACHC</em> 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.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101158"},"PeriodicalIF":1.8000,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics\",\"authors\":\"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\",\"doi\":\"10.1016/j.ymgmr.2024.101158\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>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 <em>MMACHC</em> 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 <em>MMACHC</em> 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.</div></div>\",\"PeriodicalId\":18814,\"journal\":{\"name\":\"Molecular Genetics and Metabolism Reports\",\"volume\":\"41 \",\"pages\":\"Article 101158\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-11-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Genetics and Metabolism Reports\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214426924001113\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics and Metabolism Reports","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214426924001113","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics
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.
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.
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