[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency].
The absence of aryl sulphatase B (Maroteaux-Lamy syndrome) has been confirmed in a five month old child. The estimation of urine mucopolysaccharides and enzyme studies on cultured fibroblasts were performed at an early stage.
D002803:Chondro-4-Sulfatase / Q000172:deficiency* / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D009087:Mucopolysaccharidosis VI / Q000201:enzymology*; D013429:Sulfatases / Q000172:deficiency*
D006025:Glycosaminoglycans; D013429:Sulfatases; D002803:Chondro-4-Sulfatase
Un cas de maladie de maroteaux-lamy decouvert precocement.