TY  - CHAP
M1  - Book, Section
TI  - Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family
A1  - Hopwood, John J.
A1  - Ballabio, Andrea
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
PY  - 2019
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Multiple  sulfatase  deficiency  (MSD)  is  a  rare  autosomal  recessive  disorder  with  a  prevalence  of  about  1  in  1.4  million  births,  characterized  by  deficiencies  in  all  12  known  sulfatases  and  leading  to  a  clinical  presentation  that  generally  resembles  late  infantile  metachromatic  leukodystrophy.  However,  like  those  of  all  lysosomal  storage  disorders,  the  clinical  presentation  and  progression  of  MSD  are  clinically  heterogeneous.In  MSD  all  sulfatase  polypeptides  have  reduced  catalytic  activities  toward  their  natural  substrates.  This  reduced  activity  is  caused  by  a  deficiency  in  a  modification  system  that  generates  an  α-formylglycine  residue  by  the  oxidation  of  the  thiol  group  of  an  active  site  cysteine  conserved  in  all  members  of  the  mammalian  sulfatase  family.This  novel  protein  modification  occurs  before  the  sulfatase  polypeptide  is  folded  to  a  native  structure  and  at  a  late  stage  of  or  after  cotranslational  protein  translocation  into  the  endoplasmic  reticulum.The  aldehyde  group  of  the  α-formylglycine  residue  may  accept  sulfate  during  sulfate  ester  cleavage,  leading  to  formation  of  a  covalently  sulfated  enzyme  complex.The  active  sites  of  all  sulfatases  probably  have  four  conserved  amino  acid  residues  involved  in  metal  ion  coordination  and  at  least  five  residues  involved  in  the  catalytic  mechanism.The  active  sites  of  sulfatases  and  of  alkaline  phosphatase  share  remarkable  structural  homology.Diagnosis  of  MSD  can  be  made  biochemically  from  the  characteristic  pattern  of  sulfatase  deficiencies  observed  in  various  cell  types.  Affected  individuals  have  abnormal  urinary  oligosaccharide,  mucopolysaccharide,  and  glycopeptide  profiles.  Prenatal  diagnosis  is  reliable,  and  carrier  detection  may  be  possible.There  is  no  definitive  treatment  for  patients  with  MSD.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - ommbid.mhmedical.com/content.aspx?aid=1181465994
ER  -