Neonatal glycine encephalopathy

MedGen UID:: 1785446
•Concept ID:: C5548200
•: Disease or Syndrome

Synonyms:	Classic glycine encephalopathy; classic glycine encephalopathy; neonatal glycine encephalopathy; Neonatal NKH; neonatal NKH; Neonatal non-ketotic hyperglycinemia; neonatal non-ketotic hyperglycinemia
SNOMED CT:	Neonatal glycine encephalopathy (1156803005); Neonatal non-ketotic hyperglycinemia (1156803005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0017353
Orphanet:	ORPHA289857

Definition

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeonatal glycine encephalopathy

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Non-ketotic hyperglycinemia
        Neonatal glycine encephalopathy

Professional guidelines

PubMed

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.

Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL
J Pediatr 2016 Mar;170:234-9. Epub 2016 Jan 1 doi: 10.1016/j.jpeds.2015.12.027. PMID: 26749113

Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia.

Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH
Mol Genet Metab 2008 Jun;94(2):143-7. Epub 2008 Apr 18 doi: 10.1016/j.ymgme.2008.02.010. PMID: 18395481

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

Van Hove JL, Vande Kerckhove K, Hennermann JB, Mahieu V, Declercq P, Mertens S, De Becker M, Kishnani PS, Jaeken J
J Inherit Metab Dis 2005;28(5):651-63. doi: 10.1007/s10545-005-0033-x. PMID: 16151895

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