Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and NovelMevalonate Kinase Mutations

M. Harel-Meir; Y. Bujanover; Y. Berkun; Y. Anikster; Y. Anikster

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Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and NovelMevalonate Kinase Mutations

机译：甲羟戊酸尿症患儿肝纤维化和新型甲羟戊酸激酶突变

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Mevalonic aciduria (MVA) is an inborn error of isoprene biosynthesis caused by mevalonate kinase (MVK) gene mutations. Described below is a case of a Palestinian MVA patient suffering from prolonged fevers as well as from hepatic fibrosis - a rare feature of MVA. Also demonstrated is a unique genotype - heterozigosity of two novel MVK mutations; V8F (t25a), and F38I (t112a).

机译：甲羟戊酸尿症（MVA）是由甲羟戊酸激酶（MVK）基因突变引起的异戊二烯生物合成的先天性错误。以下是巴勒斯坦MVA患者长期发烧以及肝纤维化的病例，这是MVA的罕见特征。还证明了独特的基因型-两个新的MVK突变的杂合性; V8F（t25a）和F38I（t112a）。

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《The Open Pediatric Medicine Journal》 |2009年第1期|共3页
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M. Harel-Meir; Y. Bujanover; Y. Berkun; Y. Anikster; Y. Anikster;
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1. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. [J] . Houten SM, Koster J, Romeijn GJ, European journal of human genetics: EJHG . 2001,第4期

机译：甲羟戊酸激酶（MVK）基因的组织以及引起甲羟戊酸尿症和高免疫球蛋白血症D和周期性发热综合征的新突变的鉴定。
2. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. [J] . Houten SM, Romeijn GJ, Koster J, Human Molecular Genetics . 1999,第8期

机译：鉴定和表征导致甲羟戊酸尿症（一种异戊二烯生物合成疾病）的甲羟戊酸激酶cDNA中的三个新的错义突变。
3. Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria [J] . PrasadC., SalvadoriM.I., RuparC.A. Molecular genetics and metabolism . 2012,第4期

机译：甲羟戊酸激酶缺乏症的严重表型谱，伴最小甲羟戊酸尿症
4. Staging the hepatic fibrosis on CT images: Optimizing the slice thickness and texture features [C] . Li Wendong, Zeng Yufan, Zhang Xuejun, Proceedings of 2011 2nd International Symposium on Bioelectronics and Bioinformatics . 2011

机译：在CT图像上分期肝纤维化：优化切片厚度和纹理特征
5. Effects of Deletion Mutations in Agua on Fitness and Survival of Pseudomonas aeruginosa Cystic Fibrosis Isolates [D] . McCurtain, Jennifer Lynn 2018

机译：阿瓜缺失突变对铜绿假单胞菌囊性纤维化分离株适应性和存活的影响
6. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome [O] . Dorothea Haas, Georg F Hoffmann 2006

机译：甲羟戊酸激酶缺乏症：从甲羟戊酸尿症到高免疫球蛋白D综合征
7. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome [O] . Houten, S. M., Koster, J., Romeijn, G. J., 2001

机译：甲羟戊酸激酶（MVK）基因的组织以及引起甲羟戊酸尿症和高免疫球蛋白血症D和周期性发热综合征的新突变的鉴定

Mevalonic Aciduria in a Child Featuring Hepatic Fibrosis and NovelMevalonate Kinase Mutations

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