Akella Radha Rama Devi, Aoyama Yuka, Mori Chihiro, Lingappa Lokesh, Cariappa Rohit, Fukao Toshiyuki
Department of Pediatric Neurology and Metabolic Medicine, Rainbow Hospital for Women and Children, Hyderabad, India.
Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan.
Brain Dev. 2014 Jun;36(6):537-40. doi: 10.1016/j.braindev.2013.07.007. Epub 2013 Aug 16.
Beta-ketothiolase deficiency, or mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is a rare autosomal recessive disorder affecting isoleucine catabolism and ketone body metabolism. A patient from South India presented with acute ketoacidosis at 11 months of age. During the acute crisis the C5OH (2-methyl-3-hydroxybutyryl) carnitine and C5:1 (tiglyl) carnitine were elevated and large amounts of 2-methyl-3-hydroxybutyrate, tiglylglycine, and 2-methylacetoacetate were excreted. Brain CT showed bilateral basal ganglia lesions. Potassium ion-activated acetoacetyl-CoA thiolase activity was deficient in the patient's fibroblasts. The patient is a homozygote for a novel c.578T>G (M193R) mutation. This is the first report of T2 deficiency confirmed by enzyme and molecular analysis from India.
β-酮硫解酶缺乏症，即线粒体乙酰乙酰辅酶A硫解酶（T2）缺乏症，是一种罕见的常染色体隐性疾病，影响异亮氨酸分解代谢和酮体代谢。一名来自印度南部的患者在11个月大时出现急性酮症酸中毒。急性发作期，C5OH（2-甲基-3-羟基丁酰基）肉碱和C5:1（惕各酰基）肉碱升高，大量2-甲基-3-羟基丁酸、惕各酰甘氨酸和2-甲基乙酰乙酸被排出。脑部CT显示双侧基底节病变。患者成纤维细胞中钾离子激活的乙酰乙酰辅酶A硫解酶活性缺乏。该患者是一种新型c.578T>G（M193R）突变的纯合子。这是印度首例经酶学和分子分析确诊的T2缺乏症报告。
