Merinero B, Pérez-Cerdá C, Font L M, Garcia M J, Aparicio M, Lorenzo G, Martinez Pardo M, Garzo C, Martinez-Bermejo A, Pascual Castroviejo I
Dpto. Biología Molecular, CBMSO, Universidad Autónoma de Madrid, Spain.
Neuropediatrics. 1995 Oct;26(5):238-42. doi: 10.1055/s-2007-979763.
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.
在本报告中，我们描述了7例培养的皮肤成纤维细胞中戊二酰辅酶A脱氢酶严重缺乏的新病例。所研究的患者中有3例排泄高水平的戊二酸。其余4例患者未出现明显的戊二酸尿症。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。低肉碱血症是常见的发现。一些患者在肌肉活检中还表现出呼吸链复合物缺陷。只有1例患者精神运动发育正常。尽管尝试了不同的治疗方法，但其他6例患者仍严重残疾。对于MRI显示有进行性神经功能恶化、伴有肌张力障碍和小脑体征、颞叶萎缩以及双侧基底节损害的患者，应始终对I型戊二酸尿症（GA I）进行调查。应测定体液中，尤其是脑脊液中戊二酸的存在情况以及血浆肉碱水平。这些检查可导致I型戊二酸尿症的诊断。
