Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 Klasyfikacja Disease Synonimy HIBCH deficiency Acyduria metakrylowa Defekt metabolizmu waliny Niedobór HIBCH Methacrylic aciduria Valine metabolic defect Kod ORPHA 88639 Kod OMIM 250620 Kod ICD10 E71.1 Kod ICD11 - *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