D-glyceric acidemia
MeSH: C535767ORPHA: 941
Overview
genetic disease
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 D-glyceric acidemia, sourced from HPO and Orphanet clinical annotations.
Loss of consciousnessNonketotic hyperglycinemiaSevere global developmental delayBrain atrophyProfound global developmental delayCerebral visual impairmentMetabolic acidosisProgressive encephalopathyAbnormal circulating enzyme concentration or activityMicrocephalyDelayed speech and language developmentIntellectual disabilitySeizureSpasticityGlobal developmental delayHyperglycinemiaHyperglycinuriaFloppy infantIncreased circulating free fatty acid levelIncreased CSF glycine concentrationProgressive microcephalyHearing impairmentAutistic behaviorMyoclonusChoreaHypoplasia of the corpus callosum
Classification & Codes
MeSH Code
C535767Orphanet Code
ORPHA:941D-glyceric acidemia
| MeSH | C535767 |
| Orphanet | ORPHA:941 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO