Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency?
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