期刊
NEUROPEDIATRICS
卷 35, 期 4, 页码 255-258出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-2004-821036
关键词
magnetic resonance imaging; magnetic resonance spectroscopy; N-acetylaspartate; N-acetylaspartylglutamate; capillary electrophoresis; hypoacetylaspartia
We provide a 5-year follow-up of a patient previously reported to have no NAA signal on neurospectroscopy. At 8 years this boy was found to have profound neurological dysfunction: he had truncal ataxia, no expressive speech, behaviour abnormalities, secondary microcephaly and cognitive achievements corresponding to less than 12 months of age. He started to have generalized seizures at 5 years 9 months. Although not directly proven we assume an inborn error of NAA metabolism, possibly a defect of the anabolic enzyme L-aspartate N-acetyltransferase (EC 2.3.1.17).
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据