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
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, Andrea; Gabrielli, O.. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 40:86(2014), p. 10.1186. [10.1186/PREACCEPT-1246866641374934]
Multiple sulfatase deficiency with neonatal manifestation.
BALLABIO, ANDREA;
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 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 mutationsI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.