کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6042249 | 1189781 | 2014 | 5 صفحه PDF | دانلود رایگان |
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 28Â months. She presented with moderate global developmental delay, one afebrile seizure, and hypotonia between 6 and 18Â months of life. She was treated with creatine and ornithine supplementation and a strict arginine-restricted diet for 42Â 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 33Â 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 3Â years of therapy. Additional treatment with sodium benzoate for 17Â 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.
Journal: Pediatric Neurology - Volume 51, Issue 1, July 2014, Pages 133-137