Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.
Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.
复制标题
七例西班牙戊二酰辅酶A脱氢酶缺乏症病例的不同临床和生化表现。
DOI：
10.1055/s-2007-979763
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发表时间：
1995
期刊：
影响因子：
1.4
通讯作者：
M. Ugarte
中科院分区：
文献类型：
--
作者：
B. Merinero;C. Pérez‐Cerdá;L. Font;Michel Garcia;M. Aparicio;G. Lorenzo;M. M. Pardo;C. Garzo;A. Martínez‐Bermejo;I. Castroviejo;E. Christensen;M. Ugarte
在这份报告中，我们描述了7名新患者，他们在培养的皮肤成纤维细胞中存在严重的戊二酰辅酶A脱氢酶缺陷。其中三名患者研究了排出高水平的戊二酸。其余4名患者缺乏明显的戊二酸尿症。然而，在脑脊液中发现戊二酸水平升高。在两组患者中，尿戊二酸水平与采样时的代谢状况无关。低卡尼汀血症是常见的发现。部分患者在肌肉活检中还显示呼吸链复合体缺陷。只有一名患者的精神运动发育正常。尽管尝试了不同的治疗方法，其他六名患者仍严重残疾。对于神经功能进行性恶化伴肌张力障碍和小脑体征并伴有颞叶萎缩和双侧基底节损害的MRI患者，应始终检查戊二酸尿I型(GA I)。应测定体液中是否含有戊二酸，特别是脑脊液中是否含有戊二酸，以及血浆中肉碱的水平。这些程序可导致诊断为I型戊二酸尿症。
In this report, we describe seven new patients with a severe deficiency of glutaryl-CoA dehydrogenase in cultured skin fibroblasts. Three of the patients studied excreted high levels of glutaric acid. The remaining four patients presented a lack of significant glutaric aciduria. However, glutaric acid was found in increased levels in CSF. In both groups of patients, the urine glutaric acid levels were not related to their metabolic condition at the time of sampling. Hypocarnitinemia was a common finding. Some patients also showed defects on respiratory chain complexes in muscle biopsy. Only one patient has a normal psychomotor development. The other six patients are severely handicapped despite the attempts of different therapies. In patients with progressive neurological deterioration with dystonia and cerebellar signs associated with temporal lobe atrophy and bilateral basal ganglia damage on MRI, a glutaric aciduria type I (GA I) should always be investigated. The presence of glutaric acid in body fluids, especially in CSF, as well as plasma carnitine levels, should be determined. These procedures can lead to the diagnosis of glutaric aciduria type I.