Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease

Pediatr Radiol. 1995;25(4):296-9. doi: 10.1007/BF02011106.

Abstract

Using localized proton magnetic resonance spectroscopy (1H-MRS), accumulation of branched-chain amino acids (BCAA) and their corresponding 2-oxo acids (BCOA) could be non-invasively demonstrated in the brain of a 9-year-old girl suffering from classical maple syrup urine disease. During acute metabolic decompensation, the compounds caused a signal at a chemical shift of 0.9 ppm which was assigned by in vitro experiments. The brain tissue concentration of the sum of BCAA and BCOA could be estimated as 0.9 mmol/l. Localized 1H-MRS of the brain appears to be suitable for examining patients suffering from maple syrup urine disease in different metabolic states.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acids, Branched-Chain / analysis
  • Brain Chemistry
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Magnetic Resonance Spectroscopy
  • Male
  • Maple Syrup Urine Disease / metabolism*

Substances

  • Amino Acids, Branched-Chain