GLYT1 encephalopathy

GLYT1 encephalopathy
Other namesGlycine encephalopathy with normal serum glycine.
Photo of person with GLyT1 Encephalopathy, with decreased size of head, inward turning cross eye, receding lower jaw, deep prominent philtrum, thin eyebrows.
SpecialtyMedical genetics, Neurology
Usual onsetIn infancy
Differential diagnosisGlycine encephalopathy
TreatmentSupportive

GLYT1 encephalopathy is a rare autosmal recessive, metabolic and genetic disorder which is caused by a mutation in the SLC6A9 gene.

The main features of this disorder are: severely diminished muscle tone, respiratory failure, absence of neonatal reflexes, encephalopathy, reduced consciousness and unresponsiveness, also it can present with arthrogryposis/ligament laxity, and normal serum glycine.

About 10 cases had been reported as of 2022.

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