Literature DB >> 26316201

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

T M Pierson1,2,3, Mani Nezhad4, Matthew A Tremblay5, Richard Lewis4, Derek Wong6, Noriko Salamon7, Nancy Sicotte4.   

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.

Entities:  

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

Mesh：

Substances：

Year:  2015        PMID： 26316201     DOI： 10.1007/s10048-015-0456-y

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  19 in total

1.  Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

Authors:  O Bähr; I Mader; J Zschocke; J Dichgans; J B Schulz
Journal:  Neurology       Date:  2002-12-10       Impact factor: 9.910

2.  Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

Authors:  Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto B Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann
Journal:  Pediatr Res       Date:  2006-04-26       Impact factor: 3.756

3.  Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.

Authors:  S Külkens; I Harting; S Sauer; J Zschocke; G F Hoffmann; S Gruber; O A Bodamer; S Kölker
Journal:  Neurology       Date:  2005-06-28       Impact factor: 9.910

4.  Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.

Authors:  Cyril Gitiaux; Emmanuel Roze; Kiyoka Kinugawa; Constance Flamand-Rouvière; Nathalie Boddaert; Emmanuelle Apartis; Vassili Valayannopoulos; Guy Touati; Jacques Motte; David Devos; Karine Mention; Dries Dobbelaere; Diana Rodriguez; Agathe Roubertie; Brigitte Chabrol; François Feillet; Marie Vidailhet; Nadia Bahi-Buisson
Journal:  Mov Disord       Date:  2008-12-15       Impact factor: 10.338

5.  Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

Authors:  S I Goodman; L E Kratz; K A DiGiulio; B J Biery; K E Goodman; G Isaya; F E Frerman
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

6.  Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Authors:  Inga Harting; Eva Neumaier-Probst; Angelika Seitz; Esther M Maier; Birgit Assmann; Ivo Baric; Monica Troncoso; Chris Mühlhausen; Johannes Zschocke; Nikolas P S Boy; Georg F Hoffmann; Sven F Garbade; Stefan Kölker
Journal:  Brain       Date:  2009-05-11       Impact factor: 13.501

Review 7.  Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

Authors:  Stefan Kölker; David M Koeller; Jürgen G Okun; Georg F Hoffmann
Journal:  Ann Neurol       Date:  2004-01       Impact factor: 10.422

8.  Maternal glutaric acidemia, type I identified by newborn screening.

Authors:  Eric A Crombez; Stephen D Cederbaum; Elaine Spector; Erica Chan; Denise Salazar; Julie Neidich; Stephen Goodman
Journal:  Mol Genet Metab       Date:  2008-03-04       Impact factor: 4.797

9.  Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.

Authors:  M Kyllerman; O H Skjeldal; M Lundberg; I Holme; E Jellum; U von Döbeln; A Fossen; G Carlsson
Journal:  Mov Disord       Date:  1994-01       Impact factor: 10.338

Review 10.  Diagnosis and management of glutaric aciduria type I--revised recommendations.

Authors:  Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Marjorie Dixon; Marinus Duran; Angels García Cazorla; Stephen I Goodman; David M Koeller; Mårten Kyllerman; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Georg F Hoffmann; Peter Burgard
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982
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  8 in total

1.  Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

Authors:  Bimal Patel; Surekha Pendyal; Priya S Kishnani; Marie McDonald; Lauren Bailey
Journal:  JIMD Rep       Date:  2017-11-01

Review 2.  Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Authors:  Nikolas Boy; Chris Mühlhausen; Esther M Maier; Jana Heringer; Birgit Assmann; Peter Burgard; Marjorie Dixon; Sandra Fleissner; Cheryl R Greenberg; Inga Harting; Georg F Hoffmann; Daniela Karall; David M Koeller; Michael B Krawinkel; Jürgen G Okun; Thomas Opladen; Roland Posset; Katja Sahm; Johannes Zschocke; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

3.  Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.

Authors:  Lydia Healy; Meabh O'Shea; Jennifer McNulty; Graham King; Eilish Twomey; Eileen Treacy; Ellen Crushell; Joanne Hughes; Ina Knerr; Ahmad Ardeshir Monavari
Journal:  JIMD Rep       Date:  2022-06-14

Review 4.  Organic acidurias in adults: late complications and management.

Authors:  Ali Tunç Tuncel; Nikolas Boy; Marina A Morath; Friederike Hörster; Ulrike Mütze; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-01-15       Impact factor: 4.982

5.  Glutaric Aciduria Type 1: A Case Report and Review of Literature.

Authors:  Sidaraddi Sanju; Milind S Tullu; Nithya Seshadri; Mukesh Agrawal
Journal:  J Pediatr Intensive Care       Date:  2020-04-17

6.  Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Authors:  Nikolas Boy; Jana Heringer; Renate Brackmann; Olaf Bodamer; Angelika Seitz; Stefan Kölker; Inga Harting
Journal:  Orphanet J Rare Dis       Date:  2017-04-24       Impact factor: 4.123

7.  Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.

Authors:  Laurie Bernstein; Curtis R Coughlin; Morgan Drumm; Steven Yannicelli; Fran Rohr
Journal:  Nutrients       Date:  2020-10-16       Impact factor: 5.717

8.  Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.

Authors:  Huishu E; Lili Liang; Huiwen Zhang; Wenjuan Qiu; Jun Ye; Feng Xu; Zhuwen Gong; Xuefan Gu; Lianshu Han
Journal:  Front Genet       Date:  2021-07-07       Impact factor: 4.599
  8 in total

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