Multiple Sulfatase Deficiency
📋Overview
Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by the combined deficiency of all sulfatase enzymes. It is caused by mutations in the SUMF1 gene, which impairs the activation of sulfatases. MSD leads to accumulation of sulfatide substrates, resulting in progressive neurological decline and multi-system involvement. It is considered a form of mucopolysaccharidosis and sphingolipidosis overlap syndrome.
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Medical codes (for reference)
UMLS CUI: C0268263ICD-10-CM
E75.26
MeSH
D052517
SNOMED CT (US)
54898003
Codes are provided for reference and interoperability. They are not a diagnosis.
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