Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review.
- Author:
Hai-Yan YANG
1
;
Li-Wen WU
;
Xiao-Lu DENG
;
Fei YIN
;
Li-Fen YANG
Author Information
1. Department of Pediatric Neurology, Xiangya Hospital, Central South University, Changsha 410008, China. yanglifen7@126.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(8):647-651
- CountryChina
- Language:Chinese
-
Abstract:
A case of 3-hydroxyisobutyryl-CoA hydrolase deficiency was reported, and its clinical features, gene mutation characteristics, and diagnosis and treatment were analyzed with reference to related literature. The patient aged 1 year and 6 months had developmental regression and paroxysmal dystonia after pyrexia and diarrhea, and head MRI showed symmetrical lesions in the bilateral basal ganglia. No pathogenic mutation was found in the full-length detection of mitochondrial genome. Nuclear gene detection of mitochondrial-related diseases found new compound heterozygous mutations in the HIBCH gene, i.e., c.439-2A>G and c.958A>G (p.K320E), which were inherited from his father and mother, respectively. The boy was given cocktail therapy, dietary valine restriction, and symptomatic treatment. After 2 weeks of treatment, there were improvements in dystonia and motor and intellectual development.
