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

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• 作者：T. M. Pierson ; Mani Nezhad ; Matthew A. Tremblay ; Richard Lewis ; Derek Wong…
• 关键词：Glutaric aciduria type 1 ; White matter disease ; Subependymal nodules ; Neurodegeneration
• 刊名：neurogenetics
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：16
• 期：4
• 页码：325-328
• 全文大小：332 KB
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• 作者单位：T. M. Pierson (1) (2) (3)
  Mani Nezhad (2)
  Matthew A. Tremblay (4)
  Richard Lewis (2)
  Derek Wong (5)
  Noriko Salamon (6)
  Nancy Sicotte (2)
  
  1. Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA
  2. Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA
  3. Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA
  4. Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
  5. Division of Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
  6. Department of Radiological Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Neurosciences
  Human Genetics
  Molecular Medicine
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1364-6753

文摘

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 White matter disease Subependymal nodules Neurodegeneration