glutaric aciduria type 1
ICD-10: E72.3MeSH: C536833ORPHA: 25
Overview
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder
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 glutaric aciduria type 1, sourced from HPO and Orphanet clinical annotations.
Abnormal basal ganglia morphologyGlutaric aciduriaAbnormal circulating enzyme concentration or activityDysarthriaDystoniaCommunicating hydrocephalusDysphagiaIncoordinationAthetosisHeadacheAbnormal caudate nucleus morphologyProgressive macrocephalyPallidal degenerationSubependymal nodulesFeeding difficultiesWidened subarachnoid spaceT2 hypointense basal gangliaAbnormal putamen morphologyIncreased head circumferenceOpen operculumRetinal hemorrhageDementiaSeizureAtaxiaTremorJoint dislocationRigidityChoreaAbnormality of the respiratory systemVentriculomegalyVertigoDevelopmental regressionLimb dystoniaAbnormal cerebral white matter morphologyFasting hypoglycemiaExercise intoleranceSevere muscular hypotoniaLoss of consciousnessInfantile spasmsSubdural hemorrhageCognitive impairmentPeripheral neuropathyChronic kidney disease
Classification & Codes
ICD-10 Code
E72.3MeSH Code
C536833Orphanet Code
ORPHA:25glutaric aciduria type 1
| ICD-10 | E72.3 |
| MeSH | C536833 |
| Orphanet | ORPHA:25 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO