کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8342992 1541546 2018 27 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy
ترجمه فارسی عنوان
پاسخ به درمان پزشکی و یک رژیم غذایی جدید در صفحه نمایش نوزادان بیماران مبتلا به آنسفالوپاتی اتیلالومونیک را شناسایی کرد
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
چکیده انگلیسی
Patient 2 was started on a low methionine and cysteine diet at 8 months of age utilizing SOD Anamix® Early Years, (Nutricia). Baseline EMA levels were (642 mg/g Cr; n = 2) and decreased with medical treatment by 38% to a mean of 399 (n = 4, SD = 71, p 0.0013). With dietary treatment EMA levels were further reduced by 42% to a mean of 233 (n = 8, SD = 52, p 0.0030). Lactic acid, thiosulfates and clinical outcomes were also improved. Our long-term follow-up confirms previous reports of clinical improvement with NAC and metronidazole treatment. Additionally, our studies suggest that a diet restricted in sulfur-containing amino acids results in further improvement in clinical outcomes and biochemical markers.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 124, Issue 1, May 2018, Pages 57-63
نویسندگان
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