3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib

J Inherit Metab Dis. 2003;26(7):705-9. doi: 10.1023/b:boli.0000005603.04633.21.

Abstract

We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC acid excretion correlated with plasma lactate and glucose. We speculate that imbalanced gluconeogenesis and de novo cholesterol synthesis result in secondarily increased 3MGC/3MGR production.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Blood Glucose / metabolism
  • Cholesterol / biosynthesis
  • DNA / genetics
  • Diet
  • Gluconeogenesis / physiology
  • Glycogen Storage Disease Type I / diet therapy
  • Glycogen Storage Disease Type I / urine*
  • Humans
  • Lactic Acid / blood
  • Male
  • Meglutol / analogs & derivatives*
  • Meglutol / urine

Substances

  • Blood Glucose
  • Lactic Acid
  • 3-methylglutaric acid
  • DNA
  • Cholesterol
  • Meglutol