HomeGeneticsCondition3-methylglutaconyl-CoA hydratase deficiency
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3-methylglutaconyl-CoA hydratase deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

3-methylglutaconyl-CoA hydratase deficiency

3-methylglutaconyl-CoA hydratase deficiency is a rare inherited metabolic disorder characterized by progressive neurological problems and an accumulation of acid in body fluids.

Overview

3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the breakdown (atrophy) of nerve cells that carry visual information.

In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy). This damage likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).

Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.

All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with this condition also have high urine levels of another acid called 3-methylglutaric acid.

Frequency

3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature.

Causes

Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block called leucine to provide energy for cells

Frequently Asked Questions

In children, symptoms typically begin in infancy or early childhood and include delayed mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and weakness/spasms of the arms and legs (spastic quadriparesis). Adults, often in their twenties or thirties, usually experience damage to brain white matter (leukoencephalopathy), leading to progressive speech problems (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia). Children who develop symptoms often progress to adult-onset issues later in life.
Management of neurological symptoms is primarily supportive. Physical therapy, occupational therapy, and speech therapy are crucial to help maintain motor function, reduce spasticity, improve coordination, and support communication. Medications may be used to help manage specific symptoms like dystonia or spasticity, and regular neurological evaluations are important to monitor progression and adjust therapies.
The accumulation of 3-methylglutaconic acid in body fluids and the resulting metabolic acidosis are key diagnostic markers and contribute to the disease's pathology. While specific treatments for the underlying enzyme deficiency are limited, management often focuses on supportive care, including dietary modifications to reduce the production of problematic metabolites and medications to help correct metabolic acidosis. Regular monitoring of acid levels in blood and urine is important.
s an inherited condition, 3-methylglutaconyl-CoA hydratase deficiency is passed down through families. Genetic counseling is highly recommended for affected individuals and their families. Counselors can explain the inheritance pattern, discuss the risk of recurrence in future pregnancies, and provide information on genetic testing options for family members or for prenatal diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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