Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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