Garavelli Livia, Santoro Lucia, Iori Alexandra, Gargano Giancarlo, Braibanti Silvia, Pedori Simona, Melli Nives, Frattini Daniele, Zampini Lucia, Galeazzi Tiziana, Padella Lucia, Pepe Stefano, Wischmeijer Anita, Rosato Simonetta, Ivanovski Ivan, Iughetti Lorenzo, Gelmini Chiara, Bernasconi Sergio, Superti-Furga Andrea, Ballabio Andrea, Gabrielli Orazio
Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
Pediatrics Unit, UNIVPM, Ancona, Italy.
Ital J Pediatr. 2014 Dec 17;40:86. doi: 10.1186/s13052-014-0086-2.
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).
多种硫酸酯酶缺乏症（MSD；OMIM 272200）是一种罕见的常染色体隐性遗传代谢病，由硫酸酯酶修饰因子1基因突变引起，该基因编码生成甲酰甘氨酸的酶（FGE），导致硫脂、硫酸化糖胺聚糖、鞘脂和类固醇硫酸盐在组织中蓄积。迄今为止，已发表的病例不到50例。我们报告了1例新生儿期发病的MSD新病例，表现为肌张力减退、呼吸暂停、发绀、眼球转动、肝脾肿大和耳聋。该患者为两个迄今未描述的SUMF1突变的复合杂合子（c.191C＞A；p.S64X和c.818A＞G；p.D273G）。
