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 formyglycine-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).
Multiple sulfatase deficiency with neonatal manifestation / Garavelli, L; Santoro, L; Iori, A; Gargano, G; Braibanti, S; Pedori, S; Melli, N; Frattini, D; Zampini, L; Galeazzi, T; Padella, L; Pepe, S; Wischmeijer, A; Rosato, S; Ivanovski, I; Iughetti, Lorenzo; Gelmini, C; Bernasconi, S; Superti Furga, A; Ballabio, A; Gabrielli, O.. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - ELETTRONICO. - 40.:(2014), pp. 86-86. [10.1186/s13052-014-0086-2]
Multiple sulfatase deficiency with neonatal manifestation.
IUGHETTI, Lorenzo;
2014
Abstract
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 formyglycine-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).
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