Multiple Sulfatase Deficiency
نویسندگان
چکیده
منابع مشابه
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, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a ...
متن کاملMultiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.
Multiple sulfatase deficiency (MSD) is an inherited lysosomal storage disease characterized by the deficiency of at least seven sulfatases. The basic defect in MSD is thought to be in a post-translational modification common to all sulfatases. In accordance with this concept, RNAs of normal size and amount were detected in MSD fibroblasts for three sulfatases tested. cDNAs encoding arylsulfatas...
متن کاملN-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered.
design (3). We can imagine that some statistical procedure more powerful than standard Mantel-Haenszel and Miettinen tests might narrow the confidence intervals a bit, but it would not alter these point estimates by much. Adjustment of the RR's for tobacco use provides an adequate test for confounding. With subjects categorized either as non-, ex-, or current cigarette smokers or as pipe or cig...
متن کاملCase of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
BACKGROUND Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of lysosomal metabolism. The clinical phenotypic spectrum encompasses overlapping features of variable severity and is suggestive of individual single sulfatase deficiencies (i.e., metachromatic leukodystrophy, mucopolysaccharidosis, and X-linked ichthyosis). CASE REPORT We describe a 3-year-old male wit...
متن کاملThe Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases
In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated chromosome transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic deficiency in patients' cell lines. Functional conse...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1988
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-2-8-2