Multiple sulfatase deficiency with neonatal manifestation.

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).

SUBMITTER: Garavelli L 

PROVIDER: S-EPMC4299397 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature