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Article

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

Neurogenetics - 1 Oct 2015

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

Abstract excerpt

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...

Topics

Age of Onset
Amino Acid Metabolism, Inborn Errors
Brain
Brain Diseases, Metabolic
Female
Glutaryl-CoA Dehydrogenase
Humans
Middle Aged
Mutation
White Matter

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

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

Genes

GCDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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