Musumeci Olimpia, Aguennouz Mohammed, Comi Giacomo Pietro, Rodolico Carmelo, Autunno Massimo, Bordoni Andreina, Baratta Silvia, Taroni Franco, Vita Giuseppe, Toscano Antonio
Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Italy.
Neuromuscul Disord. 2007 Dec;17(11-12):960-3. doi: 10.1016/j.nmd.2007.05.002. Epub 2007 Jul 24.
Carnitine palmitoyltransferase 2 (CPT2) deficiency is the most common defect of mitochondrial fatty acid oxidation; three different clinical phenotypes have been described but the adult form, involving exclusively the skeletal muscle, is the most frequent. We describe herein 3 families where 4 individuals manifested with the adult form of CPT2 deficiency. CPT2 gene molecular analysis identified the homozygous R631C mutation, so far only reported in severe infantile cases. Our data evidenced that R631C mutation is not exclusively detected in the infantile form but it may be present in a wider spectrum of CPT2 phenotypes. These findings indirectly suggest that other modulators may influence clinical severity of CPT2 deficiency.
肉碱棕榈酰转移酶2（CPT2）缺乏症是线粒体脂肪酸氧化最常见的缺陷；已描述了三种不同的临床表型，但仅累及骨骼肌的成人型最为常见。我们在此描述了3个家系，其中4名个体表现为成人型CPT2缺乏症。CPT2基因分子分析鉴定出纯合R631C突变，该突变迄今为止仅在严重婴儿病例中报道过。我们的数据证明，R631C突变并非仅在婴儿型中被检测到，而是可能存在于更广泛的CPT2表型谱中。这些发现间接表明，其他调节因子可能会影响CPT2缺乏症的临床严重程度。
