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Neurogenetics

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01.10.2015 | Short Communication

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

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

Erschienen in: Neurogenetics | Ausgabe 4/2015

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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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Titel: Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules
verfasst von: T. M. Pierson
Mani Nezhad
Matthew A. Tremblay
Richard Lewis
Derek Wong
Noriko Salamon
Nancy Sicotte
Publikationsdatum: 01.10.2015
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 4/2015
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-015-0456-y

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