L-alanine supplementation in late infantile glycogen storage disease type II

Pediatr Neurol. 2002 Aug;27(2):145-6. doi: 10.1016/s0887-8994(02)00413-7.

Abstract

We report a male with late infantile glycogen storage disease type II (Pompe's disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with L-alanine has been administered for 5 years. Progression of skeletal myopathy was slow, and cardiomyopathy resolved almost completely. L-alanine may be a valuable supplement for infants with glycogen storage disease type II.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Alanine / administration & dosage
  • Alanine / therapeutic use*
  • Cardiomyopathies / etiology
  • Dietary Supplements*
  • Glycogen Storage Disease Type II / complications
  • Glycogen Storage Disease Type II / genetics
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / etiology
  • Myotonic Disorders / etiology
  • Treatment Outcome

Substances

  • Alanine