Details of Disease | DrugMAP

General Information of Disease (ID: DIS7A6BM)

Disease Name	Neonatal glycine encephalopathy
Synonyms	neonatal non-ketotic hyperglycinemia; classic glycine encephalopathy; neonatal NKH
Definition	Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Disease Hierarchy	DISI2XE5: Glycine encephalopathy DIS7A6BM: Neonatal glycine encephalopathy
Disease Identifiers	MONDO ID MONDO_0017353 UMLS CUI C5548200 MedGen ID 1785446 Orphanet ID 289857 SNOMED CT ID 1156803005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMT	OTQYEWZQ	Supportive	Autosomal recessive	[1]
GCSH	OTNC1OKA	Supportive	Autosomal recessive	[1]
GLDC	OTVVDNW0	Supportive	Autosomal recessive	[1]
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References

1	Nonketotic Hyperglycinemia. 2002 Nov 14 [updated 2019 May 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.