X-linked creatine transporter deficiency presenting as a mitochondrial disorder

Samantha C. Hathaway, Michael Friez, Kimberly Limbo, Colette Parker, Gajja S. Salomons, Jerry Vockley, Tim Wood, Omar A. Abdul-Rahman

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy. We report a patient who was initially suspected of having a mitochondrial disorder but was later found to have a creatine transporter defect. The abnormal laboratory study results seen in this patient suggesting a mitochondrial cytopathy could be due to excess mitochondrial stress as well as the mitochondrial inclusion bodies. This report looks at the mitochondrial presentation of the creatine transporter deficiency.

Original languageEnglish (US)
Pages (from-to)1009-1012
Number of pages4
JournalJournal of Child Neurology
Issue number8
StatePublished - Aug 2010
Externally publishedYes


  • SCL6A8
  • creatine transporter
  • mitochondria

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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