C84937Level 9
Glycine Encephalopathy
**Semantic type:** Disease or Syndrome
**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.
**Synonyms:** - Non-Ketotic Hyperglycinemia - Nonketotic Hyperglycinemia
GET
/api/v1/systems/nci_thesaurus/nodes/C84937Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.