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Glycine encephalopathy

Disease definition

Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.

ORPHA:407

Classification level: Disorder
  • Synonym(s):
    • NKA
    • Non-ketotic hyperglycinemia
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.5
  • OMIM: 605899
  • UMLS: C0751748
  • MeSH: -
  • GARD: 7219
  • MedDRA: -

Detailed information

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