Terms & Properties

Preferred Name:  Glycine Encephalopathy

Definition:  An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.

Label:  Glycine Encephalopathy

NCI Thesaurus Code:  C84937 (Search for linked caDSR metadata)   (search value sets)

NCI Metathesaurus Link:  C0751748  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

External Source Codes: 

UMLS CUI

C0751748

Other Properties:

Name	Value (qualifiers indented underneath)
code	C84937
Contributing_Source	Cellosaurus
Contributing_Source	NICHD
Semantic_Type	Disease or Syndrome

Additional Concept Data: 

Defined Fully by Roles: No

URL:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C84937