3-Hydroxyisobutyryl-CoA deacylase deficiency explained
3-Hydroxyisobutyryl-CoA deacylase deficiency is a rare autosomal recessive condition that is associated with severely delayed psychomotor development, neurodegeneration, increased lactic acid and brain lesions in the basal ganglia.[1] Fewer than 10 patients have been described with this condition.
History
This condition was first described in 1982.[2]
Notes and References
- Yamada . Kenichiro . Naiki . Misako . Hoshino . Shin . Kitaura . Yasuyuki . Kondo . Yusuke . Nomura . Noriko . Kimura . Reiko . Fukushi . Daisuke . Yamada . Yasukazu . Shimozawa . Nobuyuki . Yamaguchi . Seiji . Shimomura . Yoshiharu . Miura . Kiyokuni . Wakamatsu . Nobuaki . Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis . Molecular Genetics and Metabolism Reports . 2014 . 1 . 455–460 . 10.1016/j.ymgmr.2014.10.003 . free . 27896122 . 5121361.
- Brown . GK . Hunt . SM . Scholem . R . Fowler . K . Grimes . A . Mercer . JF . Truscott . RM . Cotton . RG . Rogers . JG . Danks . DM . Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations . Pediatrics . October 1982 . 70 . 4 . 532–8 . 10.1542/peds.70.4.532 . 7122152.
