Durrani Sana, Chen Bee Chin, Yakob Yusnita, Hian Lua Seok, Afroze Bushra
Aga Khan Medical College, Karachi, Pakistan.
Unit of Biochemical Genetics, Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
J Pediatr Genet. 2019 Mar;8(1):15-19. doi: 10.1055/s-0038-1661411. Epub 2018 Jun 30.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem autosomal recessive disorder. The disease is clinically heterogeneous with gastrointestinal symptoms of intestinal dysmotility and cachexia as well as neurological symptoms of ophthalmoplegia, neuropathy, sensorineural hearing impairment, and diffuse leukoencephalopathy being most prominent. MNGIE is caused by mutations in , a gene that encodes thymidine phosphorylase (TP)-a cytosolic enzyme. Mutations in lead to very low TP catalytic activity, resulting in dramatically increased thymidine and deoxyuridine in plasma. We describe the clinical, biochemical, and neuroimaging findings of three boys with MNGIE from a Pakistani family with a novel homozygous mutation, c.798_801dupCGCG p. (Ala268Argfs*?), in exon 7 of .
线粒体神经胃肠性脑肌病（MNGIE）是一种罕见的多系统常染色体隐性疾病。该疾病临床症状多样，以肠道运动障碍和恶病质等胃肠道症状以及眼肌麻痹、神经病变、感音神经性听力障碍和弥漫性白质脑病等神经症状最为突出。MNGIE由 基因突变引起，该基因编码胸苷磷酸化酶（TP）——一种胞质酶。 基因突变导致TP催化活性极低，致使血浆中胸苷和脱氧尿苷显著增加。我们描述了来自一个巴基斯坦家庭的三名患有MNGIE男孩的临床、生化和神经影像学检查结果，他们在 基因的第7外显子存在一种新的纯合突变，即c.798_801dupCGCG p.（Ala268Argfs*?） 。
