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ORPHA:25Disease
Also called GA1 · GCDHD · Glutaric acidemia type 1 · Glutaric aciduria type 1 · Glutaryl-coenzyme A dehydrogenase deficiency
What it is
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.
Key facts
- Prevalence
- >1 / 1000 (Specific population)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
3Common30–79%
17- Abnormal caudate nucleus morphology
- Abnormal putamen morphology
- Athetosis
- Communicating hydrocephalus
- Dysarthria
- Dysphagia
- Dystonia
- Feeding difficulties
- Headache
- Increased head circumference
- Open operculum
- Pallidal degeneration
- Poor motor coordination
- Progressive macrocephaly
- Subependymal nodules
- T2 hypointense basal ganglia
- Widened subarachnoid space
Sometimes5–29%
21- Abnormal cerebral white matter morphology
- Abnormality of the respiratory system
- Ataxia
- Chorea
- Cognitive impairment
- Dementia
- Developmental regression
- Exercise intolerance
and 13 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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