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multiple sulfatase deficiency disease

Medical 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.
Related Codes (1)
Code
Description
Billable
Details
E75.26Sulfatase deficiency

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