Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies
المؤلفون المشاركون
Catarzi, Serena
Caciotti, Anna
Thusberg, Janita
Tonin, Rodolfo
Malvagia, Sabrina
la Marca, Giancarlo
Pasquini, Elisabetta
Cavicchi, Catia
Ferri, Lorenzo
Donati, Maria A.
Baronio, Federico
Mooney, Sean D.
Morrone, Amelia
Guerrini, Renzo
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-10-31
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الطب البشري
تكنولوجيا المعلومات وعلم الحاسوب
الملخص EN
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, seizures, brain damage, or even death.
Biochemical acylcarnitines data obtained through newborn screening by liquid chromatography-tandem mass spectrometry (LC-MS/MS) were confirmed by molecular analysis of the medium-chain acyl-CoA dehydrogenase (ACADM) gene.
Out of 324.000 newborns screened, we identified 14 MCADD patients, in whom, by molecular analysis, we found a new nonsense c.823G>T (p.Gly275*) and two new missense mutations: c.253G>C (p.Gly85Arg) and c.356T>A (p.Val119Asp).
Bioinformatics predictions based on both phylogenetic conservation and functional/structural software were used to characterize the new identified variants.
Our findings confirm the rising incidence of MCADD whose existence is increasingly recognized due to the efficacy of an expanded newborn screening panel by LC-MS/MS making possible early specific therapies that can prevent possible crises in at-risk infants.
We noticed that the “common” p.Lys329Glu mutation only accounted for 32% of the defective alleles, while, in clinically diagnosed patients, this mutation accounted for 90% of defective alleles.
Unclassified variants (UVs or VUSs) are especially critical when considering screening programs.
The functional and pathogenic characterization of genetic variants presented here is required to predict their medical consequences in newborns.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Catarzi, Serena& Caciotti, Anna& Thusberg, Janita& Tonin, Rodolfo& Malvagia, Sabrina& la Marca, Giancarlo…[et al.]. 2013. Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies. The Scientific World Journal،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1033133
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Catarzi, Serena…[et al.]. Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies. The Scientific World Journal No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-1033133
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Catarzi, Serena& Caciotti, Anna& Thusberg, Janita& Tonin, Rodolfo& Malvagia, Sabrina& la Marca, Giancarlo…[et al.]. Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies. The Scientific World Journal. 2013. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1033133
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1033133
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر