3-Hydroxyisobutyryl-CoA deacylase deficiency
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| 3-Hydroxyisobutyryl-CoA deacylase deficiency | |
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| Autosomal recessive pattern is the inheritance manner of this condition | |
| Specialty | Medical genetics |
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.
Signs and symptoms
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Causes
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Mechanism
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Diagnosis
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Treatment
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History
[edit]This condition was first described in 1982.[2]
References
[edit]- ^ 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 (2014). "Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis". Molecular Genetics and Metabolism Reports. 1: 455–460. doi:10.1016/j.ymgmr.2014.10.003. PMC 5121361. PMID 27896122.
- ^ Brown, GK; Hunt, SM; Scholem, R; Fowler, K; Grimes, A; Mercer, JF; Truscott, RM; Cotton, RG; Rogers, JG; Danks, DM (October 1982). "Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations". Pediatrics. 70 (4): 532–8. doi:10.1542/peds.70.4.532. PMID 7122152.