glycine encephalopathy
MeSH: D020158ORPHA: 407
Overview
amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with glycine encephalopathy, sourced from HPO and Orphanet clinical annotations.
SeizureHypotoniaHypoplasia of the corpus callosumHyperglycinemiaEEG abnormalityEEG with burst suppressionAbnormal metabolic brain imaging by MRSRecurrent singultusLethargyPoor suckGeneralized myoclonic seizureBreathing dysregulationRespiratory acidosis
Classification & Codes
MeSH Code
D020158Orphanet Code
ORPHA:407glycine encephalopathy
| MeSH | D020158 |
| Orphanet | ORPHA:407 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO