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Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review
YANG Hai-Yan, WU Li-Wen, DENG Xiao-Lu, YIN Fei, YANG Li-Fen
Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (8) : 647-651.
PDF(1992 KB)
PDF(1992 KB)
Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review
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.
HIBCH gene / 3-Hydroxyisobutyryl-CoA hydrolase deficiency / Leigh disease / Child
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