Traits

Traits linked to GCDH

glutaryl-CoA dehydrogenase

The Human Phenotype Ontology links 73 traits to GCDH, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal basal ganglia morphology	Very often (80–99%)
Enlarged sylvian cistern	Very often (80–99%)
Abnormal caudate nucleus morphology	Often (30–79%)
Abnormal putamen morphology	Often (30–79%)
Absent speech development	Often (30–79%)
Acute encephalopathy	Often (30–79%)
Communicating hydrocephalus	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Dystonia	Often (30–79%)
Encephalopathy	Often (30–79%)
Epilepsy	Often (30–79%)
Headache	Often (30–79%)
Inability to walk	Often (30–79%)
Incoordination	Often (30–79%)
Involuntary writhing movements in fingers, hands, toes, and feet	Often (30–79%)
Irritability	Often (30–79%)
Open operculum	Often (30–79%)
Pallidal degeneration	Often (30–79%)
Subependymal nodules	Often (30–79%)
T2 hypointense basal ganglia	Often (30–79%)
Widened subarachnoid space	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Limb dystonia	Sometimes (5–29%)
Loss of consciousness	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Peripheral neuropathy	Rarely (1–4%)
Choreoathetosis	Not recorded
Global developmental delay	Not recorded
Infantile encephalopathy	Not recorded
Lateral ventricle dilatation	Not recorded
Symmetrical progressive peripheral demyelination	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating glutarylcarnitine concentration	Always
Elevated urine 3-hydroxyglutaric level	Always
Reduced peroxisomal glutaryl-CoA oxidase activity	Always
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Glutaric aciduria	Very often (80–99%)
Low blood sugar when fasting	Sometimes (5–29%)
Elevated circulating glutaric acid concentration	Not recorded
High levels of ketone bodies	Not recorded
Increased level of ketone bodies in blood	Not recorded
Ketonuria	Not recorded
Low blood sugar	Not recorded
Metabolic acidosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint dislocation	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)
Severely decreased muscle tone	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Opisthotonus	Not recorded
Spastic diplegia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Increased head circumference	Often (30–79%)
Progressively abnormally enlarging cranium	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Poor swallowing	Often (30–79%)
Enlarged liver	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Subdural hemorrhage	Very often (80–99%)
Retinal bleeding	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Chronic kidney disease	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GCDH and how often each is seen. Find out more at hpo.jax.org.

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