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non-ketotic hyperglycinemia (glycine encephalopathy)

Pathology: - accumulation of a large amount of glycine in body fluid Genetics: - autosomal recessive - associated with defects in components of the glycine cleavage system: GCSH, GLDC, AMT Clinical manifestations: severe neurological symptoms

General

amino acid inborn error of metabolism

Database Correlations

OMIM 605899

References

  1. UniProt :accession P23434
  2. OMIM :accession 605899