Orphanet: Infantile glycine encephalopathy

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Infantile glycine encephalopathy

Disease definition

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.


Classification level: Subtype of disorder
  • Synonym(s):
    • Infantile NKH
    • Infantile non-ketotic hyperglycinemia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.5
  • OMIM: 605899
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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