Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their catalytic sites. MSD is known to combine sulfatase deficiency and clinical features of metachromatic leukodystrophy [DS:H00127]. The clinical course ranges from neonatal severe to mild juvenile cases.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00272 Multiple sulfatase deficiency
Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J
Title
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
