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

Neurogenetics
T M PiersonNancy Sicotte

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.

References

Jan 1, 1975·Biochemical Medicine·S I GoodmanC C Teng
Jan 1, 1994·Movement Disorders : Official Journal of the Movement Disorder Society·M KyllermanG Carlsson
Jan 12, 2000·Archives of Disease in Childhood·A A Monavari, E R Naughten
Oct 10, 2003·Pediatric Radiology·Eilish L TwomeyStephanie Ryan
Jan 6, 2004·Annals of Neurology·Stefan KölkerGeorg F Hoffmann
Dec 26, 2006·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Stanley H KormanGajja S Salomons
Feb 29, 2008·Molecular Genetics and Metabolism·Eric A CrombezStephen Goodman
Oct 1, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Cyril GitiauxNadia Bahi-Buisson
May 13, 2009·Brain : a Journal of Neurology·Inga HartingStefan Kölker
Mar 25, 2011·Journal of Inherited Metabolic Disease·Stefan KölkerPeter Burgard
Mar 13, 2014·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Temel Fatih YilmazAlpay Alkan

❮ Previous
Next ❯

Citations

Aug 27, 2016·Revue neurologique·A KuiperT J de Koning
Nov 18, 2016·Journal of Inherited Metabolic Disease·Nikolas BoyUNKNOWN Additional individual contributors
Jan 18, 2018·Journal of Inherited Metabolic Disease·Ali Tunç TuncelStefan Kölker
Feb 16, 2021·Journal of Pediatric Intensive Care·Sidaraddi SanjuMukesh Agrawal

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.