Synonyms: HIBCH deficiency | Methacrylic aciduria | Valine metabolic defect
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development hypotonia and progressive neurodegeneration. To date it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
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Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
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Clinical Trials
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