Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. Disease data Classification Disease Synonyms HIBCH deficiency Acyduria metakrylowa Defekt metabolizmu waliny Niedobór HIBCH Methacrylic aciduria Valine metabolic defect ORPHA code 88639 OMIM code 250620 ICD10 code E71.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl