Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia

Acta Radiol. 2005 Feb;46(1):101-3. doi: 10.1080/02841850510020888.

Abstract

Methylmalonic acidemia (MMA) is an inborn disorder of amino acid metabolism, often presenting with neurological symptoms. We present the results of magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) of the brain in a 16-month-old male patient with classic neurological and laboratory findings for MMA. MRI demonstrated the hyperintensity within globi pallidi both on T2-weighted image and DWI during the acute episode of metabolic acidosis.

Publication types

  • Case Reports

MeSH terms

  • Acidosis / pathology*
  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Diffusion Magnetic Resonance Imaging*
  • Globus Pallidus / pathology*
  • Humans
  • Infant
  • Male
  • Methylmalonic Acid / blood*

Substances

  • Methylmalonic Acid