Literature DB >> 15776225

Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type 1.

K K Oguz1, A Ozturk, A Cila.   

Abstract

Although conventional magnetic resonance imaging (MRI) findings of glutaric aciduria type 1 (GA-1) have been well established, diffusion weighted MR imaging (DWI) and proton MR spectroscopy (MRS) findings are limited. We report widespread restricted diffusion in the white matter and increased diffusion in bilateral putamen in a case of GA-1. The MRS showed decreased N-acetyl-aspartate (NAA)/creatine (Cr) ratio compared with a sex and age-matched control with no significant change in choline (Cho)/Cr ratio. The presence of the lactate peak reflecting disturbed mitochondrial functions in this disease has never been reported.

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Year:  2005        PMID： 15776225     DOI： 10.1007/s00234-005-1350-3

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


  20 in total

1.  Glutaric aciduria: inherited deficiency of glutaryl-CoA dehydrogenase activity.

Authors:  S I Goodman; J G Kohlhoff
Journal:  Biochem Med       Date:  1975-06

Review 2.  Physiological and pathophysiological roles of excitatory amino acids during central nervous system development.

Authors:  J W McDonald; M V Johnston
Journal:  Brain Res Brain Res Rev       Date:  1990 Jan-Apr

3.  Glutaric aciduria type I: ultrasonographic demonstration of early signs.

Authors:  R Forstner; G F Hoffmann; I Gassner; P Heideman; J B De Klerk; B Lawrenz-Wolf; E Doringer; P Weiss-Wichert; J Tröger; J P Colombo; E Plöchl
Journal:  Pediatr Radiol       Date:  1999-02

4.  A case of glutaric acidemia type I: effect of riboflavin and carnitine.

Authors:  P H Lipkin; C R Roe; S I Goodman; M L Batshaw
Journal:  J Pediatr       Date:  1988-01       Impact factor: 4.406

5.  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

6.  Hypothesis: a role for quinolinic acid in the neuropathology of glutaric aciduria type I.

Authors:  M P Heyes
Journal:  Can J Neurol Sci       Date:  1987-08       Impact factor: 2.104

7.  Glutaric aciduria. A "common" metabolic disorder?

Authors:  M Kyllerman; G Steen
Journal:  Arch Fr Pediatr       Date:  1980-04

8.  Investigation of the cerebral energy status in patients with glutaric aciduria type I by 31P magnetic resonance spectroscopy.

Authors:  H E Möller; H G Koch; J Weglage; F Freudenberg; K Ullrich
Journal:  Neuropediatrics       Date:  2003-04       Impact factor: 1.947

Review 9.  Magnetic resonance imaging of the brain in glutaric acidemia type I: a review of the literature and a report of four new cases with attention to the basal ganglia and imaging technique.

Authors:  Nilesh K Desai; Val M Runge; Darrell E Crisp; Matthew B Crisp; L Gill Naul
Journal:  Invest Radiol       Date:  2003-08       Impact factor: 6.016

10.  CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients.

Authors:  J Brismar; P T Ozand
Journal:  Brain Dev       Date:  1994-11       Impact factor: 1.961
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  9 in total

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Journal:  J Inherit Metab Dis       Date:  2007-01-03       Impact factor: 4.982

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3.  Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

Authors:  M J Fraidakis; C Liadinioti; L Stefanis; A Dinopoulos; R Pons; M Papathanassiou; J Garcia-Villoria; A Ribes
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Review 4.  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

5.  (1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

Authors:  Inga Harting; Nikolas Boy; Jana Heringer; Angelika Seitz; Martin Bendszus; Petra J W Pouwels; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2015-04-10       Impact factor: 4.982

Review 6.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

7.  Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.

Authors:  William J Zinnanti; Jelena Lazovic; Cathy Housman; Kathryn LaNoue; James P O'Callaghan; Ian Simpson; Michael Woontner; Stephen I Goodman; James R Connor; Russell E Jacobs; Keith C Cheng
Journal:  J Clin Invest       Date:  2007-11       Impact factor: 14.808

8.  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

Review 9.  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
  9 in total

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