کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1965154 1538646 2016 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I
ترجمه فارسی عنوان
بررسی بالینی و مولکولی در بیماران چینی مبتلا به اسیدورال گلوتار نوع I
کلمات کلیدی
Glutaric aciduria type I؛ GCDH؛ جهش سایت Splice؛ غربالگری نوزادان
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
چکیده انگلیسی

Glutaric aciduria type I (GA-I) is a rare autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH), leading to an abnormal metabolism of lysine, hydroxylysine and tryptophan. It results in accumulations of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Clinical features include the sudden onset of encephalopathy, hypotonia and macrocephaly usually before age 18 months. Here we report five cases of GA-I confirmed with mutation analysis. GCDH gene mutations were identified in all five probands with GA-I. Three of them had compound heterozygous mutations and two had homozygous mutations. Mutations of two alleles (c.334G > T and IVS11-11A > G) were novel and both of them were confirmed to be splice site mutations by reverse transcription PCR.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 453, 30 January 2016, Pages 75–79
نویسندگان
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