Skip to main content

Advertisement

SpringerLink
Log in

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

  • Paediatric Neuroradiology
  • Published:
Neuroradiology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Goodman SI, Kohlhoff JG (1975) Glutaric aciduria: inherited deficiency of glutaryl-CoA dehydrogenase activity. Biochem Med 13:138–140

    Google Scholar 

  2. Haworth JC, Booth FA, Chudley AE et al (1991) Phenotypic variation in glutaric aciduria type 1: report of fourteen cases in five Canadian Indian kindreds. J Pediatr 118:52–58

    Google Scholar 

  3. Kyllerman M, Sten G (1980) Glutaric aciduria: a ‘common’ metabolic disorder? Arch Fr Pediatr 37:279

    Google Scholar 

  4. Monavari AA, Naughten ER (2000) Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Arch Dis Child 82:67–70

    Google Scholar 

  5. Bergman I, Finegold D, Gartner JC et al. (1989) Acute profound dystonia in infants with glutaric acidemia. Pediatrics 83:228–234

    Google Scholar 

  6. Forstner R, Hoffman GF, Gassner I et al. (1999) Glutaric aciduria type 1: ultrasonographic demonstration of early signs. Pediatr Radiol 29:138–143

    Google Scholar 

  7. Brismar J, Ozand PT (1995) CT and MR of the brain in glutaric acidemia type 1: a review of 59 published cases and report of 5 new patients. Am J Neuroradiol 16:675–683

    Google Scholar 

  8. Desai NK, Runge VM, Crisp DE, Crisp MB, Naul LG (2003) Magnetic resonance imaging of the brain in glutaric acidemia type 1. A review of the literature and report of four cases with attention to the basal ganglia and imaging technique. Invest Radiol 38:489–496

    Google Scholar 

  9. Twomey EL, Naughten ER, Donoghue VB, Ryan S (2003) Neoroimaging findings in glutaric aciduria type 1. Pediatr Radiol 33:823–830

    Google Scholar 

  10. Brismar J, Ozand PT (1994) CT and MR of the brain in the diagnosis of organic acidemias: experience from 107 patients. Brain Dev 16 (Suppl):104–124

    Google Scholar 

  11. Goodman SI, Nırenberg MD, Shikes RH et al (1977) Glutaric aciduria: biochemical and morphological considerations. J Pediatr 90:746–750

    Google Scholar 

  12. Goodman SI, Markey SP, Moe PT et al (1975) Glutaric aciduria: a new disorder of amino acid metabolism.12:12–21

  13. Lipkin PH, Roe C, Goodman SI, Bathshaw ML (1988) A case of glutaric acidemia type 1: effect of riboflavine and carnithine. J Pediatr 112:62–65

    Google Scholar 

  14. Whetsell WO (1984) The use of organotypic tissue culture for study of amino acid neurotoxicity and antagonism in mammalian. CNS 7:248–250

    Google Scholar 

  15. Mc Donald JW, Johnston MW (1990) Physiological and pathophysiological roles of excitatory amino acids during central nervous system development. Brain Res Rev 15:41–70

    Google Scholar 

  16. Heyes MP (1989) Hypothesis : a role for quinolinic acid in the neuropathy of glutaric aciduria type 1. Am J Neurol 8:441–443

    Google Scholar 

  17. Moller HE, Koch HG, Weglage J, Freudenberg F, Ullrich K (2003) Investigation of the cerebral energy status in patients with glutaric aciduria type 1 by 31P magnetic resonance spectroscopy. Neuropediatr 34:57–60

    Google Scholar 

  18. Bahr O, Mader I, Zschocke J, Dichgans J, Schulz JB (2002) Adult onset glutaric aciduria type 1 presenting with leucoencephalopathy. Neurology 59:1802–1804

    Google Scholar 

  19. Elster AW (2004) Glutaric aciduria type 1. Value of diffusion weighted magnetic resonance ımaging for diagnosing acute striatal necrosis. J Comput Assist Tomogr 28:98–100

    Google Scholar 

  20. Sander JA (1995) Magnetic resonance spectroscopy. In: Orrison WW, Lewine JD, Sanders JA, Harthshorne MF (eds) Functional brain imaging. Mosby, St Louis, pp 419–467

    Google Scholar 

  21. Miller BL (1991) A review of chemical issues in 1H NMR spectroscopy: N-acetyl-L-aspatate, creatine, and choline.NMR Biomed 4:47–52

    CAS  Google Scholar 

  22. Sener RN (2003) Canavan disease. Diffusion MR ımaging findings. J Comput Assist Tomogr 27:30–33

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, Faculty of Medicine, Hacettepe University, 06100, Sihhiye Ankara, Turkey

    K. K. Oguz, A Ozturk & A Cila

Authors
  1. K. K. Oguz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A Ozturk
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A Cila
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to K. K. Oguz.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Oguz, K.K., Ozturk, A. & Cila, A. Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type 1. Neuroradiology 47, 229–234 (2005). https://doi.org/10.1007/s00234-005-1350-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00234-005-1350-3

Keywords

Search

Navigation