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, L., Gelmini, C., Bernasconi, S., Superti Furga, A., Ballabio, A., et al.. - 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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