Glycine encephalopathy

Glycine encephalopathy

Abstract Inherited neurotransmitter diseases are a subset of rare neurometabolic disorders characterized by hereditary deficiencies in neurotransmitter metabolism or transport. Non-ketotic hyperglycinaemia (NKH), called glycine encephalopathy, is an autosomal recessive glycine metabolism disorder ch...

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Bibliographic Details
Main Authors: S. Bhumika, Kanthesh M. Basalingappa, T. S. Gopenath, Suman Basavaraju
Format: Article
Language:English
Published: SpringerOpen 2022-11-01
Series:The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Subjects:
Non-ketotic hyperglycinaemia
SLC6A9 gene
GLYT1 encephalopathy
MLPA
13C glycine breath method
Online Access:https://doi.org/10.1186/s41983-022-00567-6

Internet

https://doi.org/10.1186/s41983-022-00567-6

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