کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5509687 1538629 2017 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child
ترجمه فارسی عنوان
نخستین پرونده چینی کمبود گوانیدین آتیت متیل ترانسفراز در یک کودک 4 ساله گزارش شد
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
چکیده انگلیسی
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare inherited disorder characterized by creatine (Cr) depletion and guanidinoacetate (GAA) accumulation in body fluids. We report the first identified Chinese case, diagnosed in a 4-year-old girl with onset of global developmental. Low Cr and high GAA levels were detected in her serum and urine, and low Cr level in her brain. Compound heterozygous variants in GAMT gene were found, including a previously reported variant at c.491dupG which was inherited from her mother and a novel variant at c.564G > T, which was inherited from her father. The Cr and GAA levels returned back to normal after 3 months of treatment. After one year of treatment, the patient stopped taking antiepileptic drugs and her electroencephalogram (EEG) was also back to normal. The girl was followed up for five years and exhibited good results beyond our expectation. The results have shown that protein restriction with high-dose ornithine and creatine supplements have strong therapeutic potential for our patient.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 470, July 2017, Pages 42-45
نویسندگان
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