Postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome.
The clinical course up to 6 years of age is described in a boy with Maroteaux-Lamy syndrome as indicated by the clinical characteristics: increased urinary excretion of dermatan sulphate and deficiency of arylsulphatase B in leucocytes and cultured skin fibroblasts. A subsequent pregnancy of the mother was monitored by enzyme analysis of culture amniotic fluid cells. The prenatal diagnosis of an affected fetus was made and confirmed after termination of the pregnancy.
D000328:Adult; D000653:Amniotic Fluid / Q000201:enzymology; D002648:Child; D002803:Chondro-4-Sulfatase / Q000172:deficiency*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000032:analysis; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000201:enzymology / Q000652:urine; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013429:Sulfatases / Q000172:deficiency*
D006025:Glycosaminoglycans; D013429:Sulfatases; D002803:Chondro-4-Sulfatase