Traits

Traits linked to AUH

AU RNA binding methylglutaconyl-CoA hydratase

The Human Phenotype Ontology links 32 traits to AUH, 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 cerebral white matter morphology	Often (30–79%)
Ataxia	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Abnormal basal ganglia morphology	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Sometimes (5–29%)
Progressive cerebellar ataxia	Sometimes (5–29%)
Self-mutilation	Sometimes (5–29%)
Cognitive impairment	Not recorded
Degeneration of cerebrum	Not recorded
Difficulty articulating speech	Not recorded
Febrile seizure (within the age range of 3 months to 6 years)	Not recorded
Increased reflexes	Not recorded
Leukoencephalopathy	Not recorded
Motor delay	Not recorded
Short attention span	Not recorded

Laboratory abnormality

Trait	How often it is seen
3-Methylglutaconic aciduria	Always
Reduced tissue 3-methylglutaconyl-CoA hydratase activity	Always
Low blood sugar	Sometimes (5–29%)
Metabolic acidosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Spastic tetraparesis	Sometimes (5–29%)
Spastic tetraplegia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the eye

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

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)

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 AUH and how often each is seen. Find out more at hpo.jax.org.

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