新生儿筛查计划报告的 3-羟基异戊酰基肉碱升高病例的结果

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2024-10-13 DOI:10.1016/j.ymgmr.2024.101153

Fuad Al Mutairi , Randa Alkhalaf , Abdul Rafiq Khan , Ali Al Othaim , Majid Alfadhel

{"title":"新生儿筛查计划报告的 3-羟基异戊酰基肉碱升高病例的结果","authors":"Fuad Al Mutairi , Randa Alkhalaf , Abdul Rafiq Khan , Ali Al Othaim , Majid Alfadhel","doi":"10.1016/j.ymgmr.2024.101153","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are frequently observed in newborn screening reports, necessitating consideration of various diseases in the differential diagnosis. This study aimed to analyze different forms of C5OH and explore their potential predictive value for diagnosis and outcomes.</div></div><div><h3>Methods</h3><div>A retrospective review of newborn screening positive cases for C5OH-related diseases from May 2011 to December 2023 was conducted. Clinical, biochemical, and molecular phenotypes of all confirmed positive cases during this period were examined.</div></div><div><h3>Results</h3><div>A total of 15 true positive cases were diagnosed. No significant correlation was found between the C5OH levels in newborn screening and the diagnosis of specific C5OH-related disorders or the presence of metabolic, neonatal, or developmental abnormalities. Outcomes varied based on the spectrum of diseases.</div></div><div><h3>Conclusion</h3><div>These findings indicate that relying solely on C5OH levels from newborn screening is insufficient for making accurate diagnoses or predictions regarding C5OH-related disorders. Further comprehensive evaluation and consideration of additional factors are essential for accurate diagnosis, management and outcome.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101153"},"PeriodicalIF":1.8000,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program\",\"authors\":\"Fuad Al Mutairi , Randa Alkhalaf , Abdul Rafiq Khan , Ali Al Othaim , Majid Alfadhel\",\"doi\":\"10.1016/j.ymgmr.2024.101153\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are frequently observed in newborn screening reports, necessitating consideration of various diseases in the differential diagnosis. This study aimed to analyze different forms of C5OH and explore their potential predictive value for diagnosis and outcomes.</div></div><div><h3>Methods</h3><div>A retrospective review of newborn screening positive cases for C5OH-related diseases from May 2011 to December 2023 was conducted. Clinical, biochemical, and molecular phenotypes of all confirmed positive cases during this period were examined.</div></div><div><h3>Results</h3><div>A total of 15 true positive cases were diagnosed. No significant correlation was found between the C5OH levels in newborn screening and the diagnosis of specific C5OH-related disorders or the presence of metabolic, neonatal, or developmental abnormalities. Outcomes varied based on the spectrum of diseases.</div></div><div><h3>Conclusion</h3><div>These findings indicate that relying solely on C5OH levels from newborn screening is insufficient for making accurate diagnoses or predictions regarding C5OH-related disorders. Further comprehensive evaluation and consideration of additional factors are essential for accurate diagnosis, management and outcome.</div></div>\",\"PeriodicalId\":18814,\"journal\":{\"name\":\"Molecular Genetics and Metabolism Reports\",\"volume\":\"41 \",\"pages\":\"Article 101153\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-10-13\",\"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/S221442692400106X\",\"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/S221442692400106X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

背景在新生儿筛查报告中经常观察到血浆中3-羟基异戊酰基肉碱（C5OH）水平升高和亮氨酸分解代谢受损，因此有必要在鉴别诊断中考虑各种疾病。本研究旨在分析不同形式的 C5OH，并探讨其对诊断和预后的潜在预测价值。方法回顾性分析了 2011 年 5 月至 2023 年 12 月期间新生儿筛查中 C5OH 相关疾病的阳性病例。结果共诊断出 15 例真正的阳性病例。新生儿筛查中的 C5OH 水平与特定 C5OH 相关疾病的诊断或代谢、新生儿或发育异常的存在之间没有发现明显的相关性。结论这些研究结果表明，仅仅依靠新生儿筛查中的 C5OH 含量不足以对 C5OH 相关疾病做出准确的诊断或预测。进一步的综合评估和对其他因素的考虑对于准确诊断、管理和预后至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program

Background

Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are frequently observed in newborn screening reports, necessitating consideration of various diseases in the differential diagnosis. This study aimed to analyze different forms of C5OH and explore their potential predictive value for diagnosis and outcomes.

Methods

A retrospective review of newborn screening positive cases for C5OH-related diseases from May 2011 to December 2023 was conducted. Clinical, biochemical, and molecular phenotypes of all confirmed positive cases during this period were examined.

Results

A total of 15 true positive cases were diagnosed. No significant correlation was found between the C5OH levels in newborn screening and the diagnosis of specific C5OH-related disorders or the presence of metabolic, neonatal, or developmental abnormalities. Outcomes varied based on the spectrum of diseases.

Conclusion

These findings indicate that relying solely on C5OH levels from newborn screening is insufficient for making accurate diagnoses or predictions regarding C5OH-related disorders. Further comprehensive evaluation and consideration of additional factors are essential for accurate diagnosis, management and outcome.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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.