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skos:definition |
MSH: An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.,JABL: A syndrome combining the characteristics of metachromatic leukodystrophy and mucopolysaccharidosis, marked by multiple sulfatase deficiency associated with ichthyosis, dysostosis multiplex, psychomotor retardation, and coarse facies.,NCI: A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis.
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