Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.
A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.
Tønnesen
T
T
John F Kennedy Institute, Glostrup, Denmark.
Gregersen
H N
HN
Güttler
F
F
D000328:Adult; D002478:Cells, Cultured; D002594:Cetylpyridinium / Q000652:urine; D002803:Chondro-4-Sulfatase / Q000172:deficiency*; D003871:Dermatan Sulfate / Q000652:urine*; D003951:Diagnostic Errors; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000652:urine; D006617:Hip Dislocation / Q000209:etiology; D006801:Humans; D007738:Kyphosis / Q000209:etiology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis; D009087:Mucopolysaccharidosis VI / Q000235:genetics* / Q000652:urine; D010641:Phenotype; D014574:Uronic Acids / Q000652:urine
D006025:Glycosaminoglycans; D014574:Uronic Acids; D003871:Dermatan Sulfate; D002594:Cetylpyridinium; D002803:Chondro-4-Sulfatase