Details of Disease

Disease Name

Glycine encephalopathy

GCE; hyperglycinemia, Nonketotic; hyperglycinemia, transient neonatal; hyperglycinemia nonketotic; Glycine synthase deficiency; GLYCINE encephalopathy; NKA; glycine encephalopathy; non-ketotic hyperglycinemia; Nonketotic Hyperglycinemia; nonketotic hyperglycinemia

Definition

Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.

Disease Hierarchy

DISD715V: Hereditary neurological disease

DISNPKSV: Inborn disorder of serine family metabolism

DIS6ZC3X: Brain disease

DISI2XE5: Glycine encephalopathy

Disease Identifiers

MONDO ID

MONDO_0011612

MESH ID

D020158

UMLS CUI

C0751748

OMIM ID

605899

MedGen ID

155625

HPO ID

HP:0008288

Orphanet ID

407

SNOMED CT ID

237939006

General Information of Disease (ID: DISI2XE5)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MGAT1	TTYJRN5	Strong	Biomarker	[1]
SLC6A9	TTHJTF7	Strong	Biomarker	[1]
UGCG	TTPHEX3	Strong	Altered Expression	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GCLC	DESYL1F	Strong	Altered Expression	[2]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLRX5	OTE3L48D	Disputed	Genetic Variation	[3]
OCA2	OTDWIGBF	moderate	Biomarker	[4]
BOLA3	OTDEDY0S	Strong	Genetic Variation	[5]
GCSH	OTNC1OKA	Strong	Autosomal recessive	[6]
LIAS	OTOSW67J	Strong	Genetic Variation	[7]
LIPT1	OT2KCI00	Strong	Biomarker	[8]
SURF1	OTAINRSS	Strong	Genetic Variation	[3]
AMT	OTQYEWZQ	Definitive	Autosomal recessive	[6]
GLDC	OTVVDNW0	Definitive	Autosomal recessive	[6]
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⏷ Show the Full List of 9 DOT(s)

References

1	The effect of hyperglycinemic treatment in captive-bred Vervet monkeys (Chlorocebus aethiops).Metab Brain Dis. 2019 Oct;34(5):1467-1472. doi: 10.1007/s11011-019-00449-6. Epub 2019 Jun 22.
2	Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).Brain Dev. 2011 Oct;33(9):753-7. doi: 10.1016/j.braindev.2011.03.001. Epub 2011 Apr 5.
3	Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.Neuroimaging Clin N Am. 2015 Feb;25(1):31-51. doi: 10.1016/j.nic.2014.09.004.
4	Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.EMBO J. 2005 Apr 20;24(8):1523-36. doi: 10.1038/sj.emboj.7600632. Epub 2005 Mar 24.
5	Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11.
6	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
7	Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27.
8	LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.Am J Med Genet A. 2018 May;176(5):1184-1189. doi: 10.1002/ajmg.a.38654.