137 top medical experts on Beta-Hydroxyisobutyryl CoA Deacylase Deficiency across 15 countries and 4 U.S. states, including 14 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Beta-Hydroxyisobutyryl CoA Deacylase Deficiency: 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.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency, HIBCH Deficiency, Methacrylic Acid Toxicity, Methacrylic Aciduria, Valine Metabolic Defect
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