Multiple sulfatase deficiency with neonatal manifestation

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299397/
https://www.ncbi.nlm.nih.gov/pubmed/25516103
http://dx.doi.org/10.1186/s13052-014-0086-2
Descripción
Sumario: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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