Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

ABSTRACT:

Background

Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD. Other than symptomatic treatment, no curative therapy exists as of yet for MSD. Eight out of these 17 sulfatases are primarily localized in the lysosome.

Methods

Two siblings with attenuated MSD underwent hematopoietic cell transplantation (HCT), evaluating the possibility of lysosomal enzymatic cross-correction from the donor cells.

Results

There is evidence of correction

SUBMITTER: Pillai NR 

PROVIDER: S-EPMC11718225 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature