Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

Clin Genet. 2005 Oct;68(4):379-81. doi: 10.1111/j.1399-0004.2005.00489.x.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Amino Acid Transport Disorders, Inborn / genetics
  • Amino Acid Transport Disorders, Inborn / physiopathology*
  • Brain / metabolism*
  • Creatine / deficiency*
  • Depression / genetics
  • Depression / physiopathology
  • Disease Progression
  • Female
  • Gastrointestinal Diseases / genetics
  • Gastrointestinal Diseases / physiopathology
  • Humans
  • Male
  • Membrane Transport Proteins / deficiency*
  • Membrane Transport Proteins / genetics*
  • Mental Retardation, X-Linked / genetics
  • Mental Retardation, X-Linked / physiopathology
  • Middle Aged
  • Mutation
  • Syndrome

Substances

  • Membrane Transport Proteins
  • creatine transporter
  • Creatine