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Multiple Sulfatase Deficiency Disease definition: 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.
Austin syndrome definition: 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.
 
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