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multiple sulfatase deficiency

MIM.272200 3p26

Monday 26 November 2007

Multiple sulfatase deficiency or juvenile sulfatidosis (MIM.272200) is a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

Multiple sulfatase deficiency is caused by mutations in the sulfatase-modifying factor-1 gene (SUMF1) (MIM.607939).

References

- Macaulay RJ, Lowry NJ, Casey RE.Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.Pediatr Neurol. 1998 Nov;19(5):372-6. PMID: 9880143