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Open Access 01-12-2014 | Case report

Multiple sulfatase deficiency with neonatal manifestation

Authors: Livia Garavelli, Lucia Santoro, Alexandra Iori, Giancarlo Gargano, Silvia Braibanti, Simona Pedori, Nives Melli, Daniele Frattini, Lucia Zampini, Tiziana Galeazzi, Lucia Padella, Stefano Pepe, Anita Wischmeijer, Simonetta Rosato, Ivan Ivanovski, Lorenzo Iughetti, Chiara Gelmini, Sergio Bernasconi, Andrea Superti-Furga, Andrea Ballabio, Orazio Gabrielli

Published in: Italian Journal of Pediatrics | Issue 1/2014

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 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).

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Title: Multiple sulfatase deficiency with neonatal manifestation
Authors: Livia Garavelli
Lucia Santoro
Alexandra Iori
Giancarlo Gargano
Silvia Braibanti
Simona Pedori
Nives Melli
Daniele Frattini
Lucia Zampini
Tiziana Galeazzi
Lucia Padella
Stefano Pepe
Anita Wischmeijer
Simonetta Rosato
Ivan Ivanovski
Lorenzo Iughetti
Chiara Gelmini
Sergio Bernasconi
Andrea Superti-Furga
Andrea Ballabio
Orazio Gabrielli
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2014
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-014-0086-2

At a glance: The STEP trials

Springer Medicine

Multiple sulfatase deficiency with neonatal manifestation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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