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01-10-2015 | Short Communication

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

Authors: T. M. Pierson, Mani Nezhad, Matthew A. Tremblay, Richard Lewis, Derek Wong, Noriko Salamon, Nancy Sicotte

Published in: Neurogenetics | Issue 4/2015

Abstract

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.

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Title: Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules
Authors: T. M. Pierson
Mani Nezhad
Matthew A. Tremblay
Richard Lewis
Derek Wong
Noriko Salamon
Nancy Sicotte
Publication date: 01-10-2015
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 4/2015
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-015-0456-y

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

Abstract

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Abstract

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