3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency (OMIM 250620) is an autosomal recessive inborn error of valine catabolism characterized by severely delayed psychomotor development, progressive neurodegeneration, recurrent metabolic attacks with intercurrent illness, increased lactic acid, cerebral atrophy, ...
3-hydroxyisobutyryl-CoA hydrolase CAS号: 9025-88-1 英文名: 3-hydroxyisobutyryl-CoA hydrolase 英文别名: 3-hydroxyisobutyryl-CoA hydrolase 中文名: 3-hydroxyisobutyryl-CoA hydrolase 中文别名: CBNumber: CB61343562 分子式: 分子量: 0 MOL File: Mol file ...
Upon whole‐exome sequencing, he was diagnosed with 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH deficiency should be considered in the differential diagnosis of Leigh‐like disease and/or organic aciduria.Clinical Case Reports...
3‐hydroxy isobutyl‐CoA hydrolase (HIBCH) deficiency is a recently described, rare inborn error of valine metabolism associated with a Leigh syndrome‐like phenotype, neurodegenerative symptoms, and caused by recessive mutations in the HIBCH gene. We report the most severe case to date ...
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder of valine metabolism which may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria. Neuroimaging findings include signal abnormalities of the deep gray matter, ...
3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.doi:10.4103/aian.aian_192_20Nafiye Emel akarOrhan GrükmezAnn Indian Acad Neurol
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of valine catabolism has remained unknown until now. Here, we present a second patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency, who ...
Human liver disease decreases methacrylyl-CoA hydratase and beta- hydroxyisobutyryl-CoA hydrolase activities in valine catabolism. Clin. Chim. Acta 2001, 312, 115-121.Ishigure K,Shimomura Y,Murakami T,Kaneko T,Takeda S,Inoue S, et al.Human liver disease decreases methacrylyl-CoA hydratase ...
Human liver disease decreases methacrylyl-coa hydratase and beta- hydroxyisobutyryl-coa hydrolase activities in valine catabolism. Clin. Chim. Acta 2001, 312, 115-121.Koshikawa, K.; Nonami, T.; Nakao, A. Human liver disease decreases methacrylyl-CoA 12 13 14 hydratase and beta-hydroxy...
Divergent function crotonase superfamily anhydride int 3-hydroxyisobutyryl CoA hydrolase hydrataseGerlt, J A