کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1999197 | 1065845 | 2008 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
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چکیده انگلیسی
The rare autosomal recessive disorder pyridoxine 5′-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene revealed a novel homozygous c.284G>A transition in exon 3, resulting in arginine to histidine substitution and reduced activity of the PNPO mutant to 18% relative to the wild type. This finding enabled molecular prenatal diagnosis in a subsequent pregnancy, accurate genetic counseling in the large inbred family, and population screening.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 94, Issue 4, August 2008, Pages 431–434
Journal: Molecular Genetics and Metabolism - Volume 94, Issue 4, August 2008, Pages 431–434
نویسندگان
Morad Khayat, Stanley H. Korman, Pnina Frankel, Zalman Weintraub, Sylvia Hershckowitz, Vered Fleisher Sheffer, Mordechai Ben Elisha, Ronald A. Wevers, Tzipora C. Falik-Zaccai,