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.
YANG Hai-Yan,WU Li-Wen,DENG Xiao-Lu et al. Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review[J]. CJCP, 2018, 20(8): 647-651.
Hawes J W, Jaskiewicz J, Shimomura Y, et al. Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase[J]. J Biol Chem,1996, 271(42):26430-26434.
[4]
Stiles AR, Ferdinandusse S, Besse A, et al. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease[J]. Mol Genet Metab, 2015,115(4):161-167.
[5]
Soler-Alfonso C, Enns GM, Koenig MK, et al. Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome:a gene involved in valine metabolism[J]. Pediatr Neurol, 2015, 52(3):361-365.
[6]
Yamada K, Naiki M, Hoshino S, et al. Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis[J]. Mol Genet Metab Rep, 2014, 1:455-460.
[7]
Loupatty FJ, Clayton PT, Ruiter JP, et al. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration[J]. Am J Hum Genet, 2007, 80(1):195-199.
[8]
Ferdinandusse S, Waterham HR, Heales SJ, et al. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase[J]. Orphanet J Rare Dis, 2013, 8:188.
[9]
Reuter MS, Sass JO, Leis T, et al. HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders[J]. Am J Med Genet A, 2014, 164A(12):3162-3169.
[10]
Peters H, Ferdinandusse S, Ruiter JP, et al. Metabolite studies in HIBCH and ECHS1 defects:Implications for screening[J]. Mol Genet Metab, 2015, 115(4):168-173.
[11]
Schottmann G, Sarpong A, Lorenz C, et al. A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene[J]. Mov Disord, 2016, 31(11):1733-1739.
