Pierson T M, Nezhad Mani, Tremblay Matthew A, Lewis Richard, Wong Derek, Salamon Noriko, Sicotte Nancy
Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Neurogenetics. 2015 Oct;16(4):325-8. doi: 10.1007/s10048-015-0456-y. Epub 2015 Aug 29.
A 55-year-old female presented with a 6-year history of paresthesias, incontinence, spasticity, and gait abnormalities. Neuroimaging revealed white matter abnormalities associated with subependymal nodules. Biochemical evaluation noted increased serum C5-DC glutarylcarnitines and urine glutaric and 3-hydroxyglutaric acids. Evaluation of the glutaryl-CoA dehydrogenase (GCDH) gene revealed compound heterozygosity consisting of a novel variant (c.1219C>G; p.Leu407Val) and pathogenic mutation (c.848delT; p.L283fs). Together, these results were consistent with a diagnosis of adult-onset type I glutaric aciduria.
一名55岁女性，有6年感觉异常、尿失禁、痉挛和步态异常病史。神经影像学检查发现与室管膜下结节相关的白质异常。生化评估显示血清C5 - DC戊二酰肉碱以及尿液中的戊二酸和3 - 羟基戊二酸增加。对戊二酰辅酶A脱氢酶（GCDH）基因的评估发现复合杂合性，由一个新的变异（c.1219C>G；p.Leu407Val）和一个致病突变（c.848delT；p.L283fs）组成。综合这些结果，符合成人型I型戊二酸血症的诊断。
