multiple sulfatase deficiency
- multiple sulfatase deficiency
- an autosomal recessive lysosomal storage disease caused by a mutation in the SUMF1 gene (locus: 3p26), which encodes a factor necessary for catalytic activity of eukaryotic sulfatases, resulting in deficiency of at least nine lysosomal and microsomal sulfatases and leading to accumulation of sulfate-containing glycolipids, mucopolysaccharides, and steroids. The disorder generally manifests as metachromatic leukodystrophy and later also shows features of mucopolysaccharidoses, variably combining phenotypic features of the specific enzymatic defects. Neurologic deterioration is rapid. Called also mucosulfatidosis.
Medical dictionary.
2011.
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