کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6042249 1189781 2014 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical ObservationsCase Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate
ترجمه فارسی عنوان
مشاهدات بالینی مطالعه موردی برای ارزیابی توصیه های درمانی کنونی کمبود متیل ترانسفراز گوانیدین اسیدهای آمینه: اثربخشی بنزوات سدیم
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی

BackgroundGuanidinoacetate methyltransferase deficiency is an autosomal recessively inherited disorder of creatine biosynthesis. We report a new patient with guanidinoacetate methyltransferase deficiency and her >3-year treatment outcome.PatientThis is a 6-year-old girl who was diagnosed with guanidinoacetate methyltransferase deficiency at the age of 28 months. She presented with moderate global developmental delay, one afebrile seizure, and hypotonia between 6 and 18 months of life. She was treated with creatine and ornithine supplementation and a strict arginine-restricted diet for 42 months.ResultsMutation analysis (compound heterozygous mutations, a known c.327G>A and a novel c.58dupT [p.Trp20LeufsX65]) and enzyme studies in primary fibroblasts confirmed the diagnosis. After 33 months of therapy, her cerebrospinal fluid guanidinoacetate level decreased from 47 to 5.3 times the normal level. Brain creatine by proton magnetic resonance spectroscopy increased by >75% but did not normalize in the basal ganglia and white matter after 3 years of therapy. Additional treatment with sodium benzoate for 17 months did not further improve plasma guanidinoacetate levels, which questions the relevance of this therapy.ConclusionTreatment did not improve moderate intellectual disability or normalize guanidinoacetate accumulation in the central nervous system.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 51, Issue 1, July 2014, Pages 133-137
نویسندگان
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