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Related Experiment Videos

Congenital creatine transporter deficiency.

T J deGrauw1, G S Salomons, K M Cecil

  • 1Division of Neurology, Cincinnati Children's Hospital Medical Center and College of Medicine, University of Cincinnati, Ohio 45229-3039, USA. Ton.degrauw@cchmc.org

Neuropediatrics
|January 22, 2003
PubMed
Summary

X-linked creatine transporter deficiency causes developmental delay and language impairment in males. This genetic disorder may be more common than previously thought, affecting creatine metabolism.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Inborn errors of creatine metabolism include two synthesis defects and X-linked creatine transporter (SLC6A8) deficiency.
  • This study investigates five male patients and their female carriers with X-linked creatine transporter deficiency syndrome.

Observation:

  • Proton MR spectroscopy revealed significantly depressed or absent creatine and phosphocreatine in affected males.
  • Molecular analysis identified nonsense mutations and amino acid deletions in the SLC6A8 gene.

Findings:

  • Affected males presented with developmental delay and severe expressive language impairment.
  • Four families with X-linked creatine transporter deficiency were identified in a U.S. metropolitan area.

Implications:

Related Experiment Videos

  • Creatine transporter deficiency may be an underdiagnosed X-linked genetic disorder.
  • The findings highlight the crucial role of creatine in male neurodevelopment, particularly language.