Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.

Arylsulfatase B deficiency was demonstrated in peripheral leukocytes, cultured skin fibroblasts, and 
a lymphoid line derived from a patient with MLS. The patient's 
parents demonstrated levels of arylsulfatase B that were intermediate between those 
found in patient and those in control subjects. The activity (mean 
plus or minus SD) in leukocytes from normal subjects, the patient's 
parents, and the patient was 113.7 plus or minus 36.2, 31.0, 
and 5.2 nmol 4-nitrocatechol/mg protein/hr, respectively. In skin fibroblasts of the 
same subjects the activity was 145.2 plus or minus 41.6, 58.5, 
and 7.0, respectively. Nine other lysosomal enzymes were normal in skin 
fibroblasts of the patient. No arylsulfatase B activity was detected in 
a lymphoid line established from the patient with MLS. The arylsulfatase 
B activity in cultured amniotic fluid cells from 10 normal pregnancies 
was 203.2 plus or minus 49.9. 