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Related Experiment Videos

X-linked creatine transporter defect: an overview.

G S Salomons1, S J M van Dooren, N M Verhoeven

  • 1Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. g.salomons@vumc.nl

Journal of Inherited Metabolic Disease
|August 2, 2003
PubMed
Summary
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SLC6A8 deficiency is an X-linked inborn error of metabolism affecting creatine transport. This genetic disorder causes intellectual disability, speech delays, and seizures in affected males and carriers.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Identified in 2001, SLC6A8 deficiency is an X-linked inborn error of metabolism.
  • Characterized by a defect in the creatine transporter gene SLC6A8, mapped at Xq28.
  • Presumed X-linked inheritance due to brain creatine absence, elevated urinary creatine, and family pedigree.

Purpose of the Study:

  • To confirm the X-linked creatine transporter defect as the cause of SLC6A8 deficiency.
  • To investigate the genetic basis and clinical manifestations of this disorder.

Main Methods:

  • Proton magnetic resonance spectroscopy (MRS) to assess brain creatine levels.
  • Analysis of urinary creatine and plasma guanidinoacetate levels.
  • Genetic mutation analysis (hemizygous nonsense mutation) and fibroblast creatine uptake assays.

Related Experiment Videos

  • Pedigree analysis to determine inheritance patterns.

    • Main Results:

    • Confirmed a defect in the X-linked creatine transporter SLC6A8 gene.
    • Demonstrated impaired creatine uptake in cultured fibroblasts.
    • Identified 7 unrelated families with 13 affected males and 13 carriers.
    • Observed X-linked mental retardation, speech/language delay, epilepsy, developmental delay, and autistic behavior in patients.
    • Noted learning disabilities in approximately 50% of female carriers.

    Conclusions:

    • SLC6A8 deficiency is a significant cause of X-linked intellectual disability and developmental disorders.
    • The disorder may have a higher incidence than previously thought.
    • Early identification and understanding of SLC6A8 deficiency are crucial for affected individuals and families.