Glycine transporter 1 (GLYT1) encephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Glycine transporter 1 (GLYT1) encephalopathy. This results from mutations of the SLC6A9 gene. Fully referenced neurology checklist.

Genetics

  • This results from mutations of the SLC6A9 gene
  • The gene encodes the glycine transporter 1

Neurological features

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Skeletal features

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Dysmorphic features

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Systemic features

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Glycine tests

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Magnetic resonance imaging (MRI) brain: features

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Synonyms

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References

  1. Alfallaj R, Alfadhel M. Glycine transporter 1 encephalopathy from biochemical pathway to clinical disease: review. Child Neurol Open 2019; 6:2329048X19831486.
  2. Kurolap A, Armbruster A, Hershkovitz T, et al. Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine. Am J Hum Genet 2016; 99:1172-1180.
  3. Subramanian V, Kadiyala P, Hariharan P, Neeraj E. A rare case of glycine encephalopathy unveiled by valproate therapy. J Pediatr Neurosci 2015; 10:143-145.

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