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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Jiddeke M van de Kamp1, Petra J W Pouwels, Femke K Aarsen

  • 1Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands. jm.vandekamp@vumc.nl

Journal of Inherited Metabolic Disease
|May 11, 2011
PubMed

Insights

Combination treatment with creatine, L-arginine, and glycine did not improve cerebral creatine levels or provide lasting clinical benefits for X-linked intellectual disability due to creatine transporter defects. An age-related IQ decline was observed.

Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic Disorders

Background:

  • X-linked intellectual disability (XLID) is a group of genetic disorders.
  • Creatine transporter (CRTR) defect is a recently identified cause of XLID.
  • Previous treatments like creatine monotherapy have shown limited efficacy.

Observation:

  • Nine boys with molecularly confirmed CRTR defect were treated for 4-6 years.
  • Treatment involved a combination of creatine monohydrate, L-arginine, and glycine.
  • Repeated (1)H-MRS and neuropsychological assessments were conducted.

Findings:

  • Combination therapy did not significantly increase cerebral creatine content.
  • An initial improvement in locomotor and personal-social IQ subscales was not sustained.
  • An age-related decline in IQ subscales was observed in affected boys.

Implications:

  • Current combination therapy strategies may not be effective for CRTR defect.
  • Further research is needed to identify effective treatments for this condition.
  • Understanding the neurobiological impact of CRTR defect is crucial for developing interventions.

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