Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules

作者：Pierson T M^*; Nezhad Mani; Tremblay Matthew A; Lewis Richard; Wong Derek; Salamon Noriko; Sicotte Nancy

来源：Neurogenetics, 2015, 16(4): 325-328.

DOI：10.1007/s10048-015-0456-y

• Glutaric aciduria type 1
• White matter disease
• Subependymal nodules
• Neurodegeneration

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.

• 出版日期2015-10