glutaryl-CoA dehydrogenase deficiency
Findings
No curated finding names glutaryl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009281), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
57 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.
- Elevated circulating glutarylcarnitine concentrationHPOHP:0033442
- 4 of 4 reported patients
- Elevated urine 3-hydroxyglutaric levelHPOHP:0034656
- 7 of 7 reported patients
- Reduced peroxisomal glutaryl-CoA oxidase activityHPOHP:0034688
- 181 of 181 reported patients
- Glutaric aciduriaHPOHP:0003150
- 54 of 60 reported patients
- Very frequent (80% to 99% of cases)
- Enlarged sylvian cisternHPOHP:0100952
- 6 of 7 reported patients
- Subdural hemorrhageHPOHP:0100309
- 6 of 7 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 45
- Abnormal caudate nucleus morphologyHPOHP:0002339
- Frequent (30% to 79% of cases)
- Abnormal putamen morphologyHPOHP:0031982
- Frequent (30% to 79% of cases)
- AthetosisHPOHP:0002305
- Frequent (30% to 79% of cases)
- Communicating hydrocephalusHPOHP:0001334
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- GCDHHGNC:4189
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: glutaryl-CoA dehydrogenase deficiency
- Also called
- GA1GCDHDglutaric acidemia type 1glutaric aciduria type 1glutaric aciduria, type 1glutaricaciduria, type Iglutaryl-coenzyme A dehydrogenase deficiency