glycine encephalopathy
Findings
No curated finding names glycine encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011612), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metabolic brain imaging by MRSHPOHP:0012705
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- EEG with burst suppressionHPOHP:0010851
- Very frequent (80% to 99% of cases)
- HyperglycinemiaHPOHP:0002154
- Very frequent (80% to 99% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Recurrent singultusHPOHP:0100247
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Breathing dysregulationHPOHP:0005957
- Frequent (30% to 79% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
Show the remaining 1
- Respiratory acidosisHPOHP:0005972
- Frequent (30% to 79% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AMTHGNC:473
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- GLDCHGNC:4313
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- GCSHHGNC:4208
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: glycine encephalopathy
- Also called
- NKAnon-ketotic hyperglycinemiaNonketotic Hyperglycinemia