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

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

doi:10.1007/s10048-015-0456-y

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

Neurogenetics. 2015 Oct;16(4):325-8. doi: 10.1007/s10048-015-0456-y. Epub 2015 Aug 29.

Authors

T M Pierson^{1

2

3}, Mani Nezhad⁴, Matthew A Tremblay⁵, Richard Lewis⁴, Derek Wong⁶, Noriko Salamon⁷, Nancy Sicotte⁴

Affiliations

¹ Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. [email protected].
² Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. [email protected].
³ Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. [email protected].
⁴ Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁵ Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
⁶ Division of Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
⁷ Department of Radiological Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

PMID: 26316201
DOI: 10.1007/s10048-015-0456-y

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.

Keywords: Glutaric aciduria type 1; Neurodegeneration; Subependymal nodules; White matter disease.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Age of Onset
Amino Acid Metabolism, Inborn Errors / blood
Amino Acid Metabolism, Inborn Errors / genetics*
Amino Acid Metabolism, Inborn Errors / pathology*
Amino Acid Metabolism, Inborn Errors / urine
Brain / pathology*
Brain Diseases, Metabolic / blood
Brain Diseases, Metabolic / genetics*
Brain Diseases, Metabolic / pathology*
Brain Diseases, Metabolic / urine
Female
Glutaryl-CoA Dehydrogenase / blood
Glutaryl-CoA Dehydrogenase / deficiency*
Glutaryl-CoA Dehydrogenase / genetics
Glutaryl-CoA Dehydrogenase / urine
Humans
Middle Aged
Mutation
White Matter / pathology*

Substances

Glutaryl-CoA Dehydrogenase

Supplementary concepts

Glutaric Acidemia I