Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease

J Pediatr. 2006 Jun;148(6):828-30. doi: 10.1016/j.jpeds.2006.01.043.

Abstract

Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.

Publication types

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

MeSH terms

  • Amidinotransferases / deficiency*
  • Amidinotransferases / genetics
  • Breast Feeding
  • Creatine / analysis
  • Creatine / biosynthesis
  • Creatine / therapeutic use*
  • Dietary Supplements
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Spectroscopy
  • Male
  • Mental Disorders / etiology
  • Mental Disorders / therapy
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / therapy*
  • Milk, Human / chemistry
  • Mutation
  • Phenotype
  • Psychomotor Performance
  • Time Factors

Substances

  • Amidinotransferases
  • glycine amidinotransferase
  • Creatine