title: Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.
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.
authors: Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. tyler.pierson@cshs.org.|Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. tyler.pierson@cshs.org.|Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. tyler.pierson@cshs.org.
authors: T M
authors: http://orcid.org/0000-0003-1985-3671
authors: TM
authors: Pierson
authors: Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
authors: Mani
authors: M
authors: Nezhad
authors: Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
authors: Matthew A
authors: MA
authors: Tremblay
authors: Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
authors: Richard
authors: R
authors: Lewis
authors: Division of Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
authors: Derek
authors: D
authors: Wong
authors: Department of Radiological Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
authors: Noriko
authors: N
authors: Salamon
authors: Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
authors: Nancy
authors: N
authors: Sicotte
mesh_terms: D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics* / Q000473:pathology* / Q000652:urine; D001921:Brain / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000097:blood / Q000235:genetics* / Q000473:pathology* / Q000652:urine; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000097:blood / Q000172:deficiency* / Q000235:genetics / Q000652:urine; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D066127:White Matter / Q000473:pathology*
chemical_list: D050770:Glutaryl-CoA Dehydrogenase
keywords: Glutaric aciduria type 1; Neurodegeneration; Subependymal nodules; White matter disease