3-hydroxyisobutyryl-CoA hydrolase deficiency

3-hydroxyisobutyryl-CoA hydrolase deficiency is a rare condition that affects the brain and muscles. It is characterized by delayed motor development, low muscle tone (hypotonia), and a progressive loss of neurological function. The condition has been described in a small number of cases, specifically observed in four boys. This disease is linked with changes in the HIBCH gene, which is important for a specific enzyme function in the body. Although detailed information is limited, the condition is understood as a form of neurodegeneration related to issues in processing certain substances in the body.

People with this condition may experience delayed motor milestones, muscle weakness (hypotonia), and a gradual decline in their neurological function. These symptoms affect movement and overall development.

The condition is caused by mutations in both copies of the HIBCH gene. This gene provides instructions for making an enzyme called 3-hydroxyisobutyryl-CoA hydrolase. Changes in this gene disrupt the normal breakdown of certain molecules, which may lead to the symptoms seen in this condition. Information about risk factors and the precise mode of transmission is currently limited.

Information about treatment options is currently limited for this condition.

There is limited information on the long-term outlook for people with this condition. The progressive nature of the symptoms may impact quality of life over time.

Current research for 3-hydroxyisobutyryl-CoA hydrolase deficiency is limited due to the rarity of the condition. Future studies may provide more insights into its cause and potential treatments.