Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and alpha 1-antitrypsin deficiency.
The chance coincidence of an X-linked disorder with an autosomal recessive disorder in one child is described. The child had the clinical phenotype of a mucopolysaccharidosis and the activity of iduronate sulphatase was almost absent. Furthermore, fibroblasts from a typical Hunter patient were unable to correct the patient's fibroblasts. However, three 24 h urine samples collected at 18-36 months of age showed a nearly normal excretion of acid mucopolysaccharides. The boy died in liver coma at 3 years of age. Autopsy showed cirrhosis of the liver and changes in liver tissue consistent with alpha 1-antitrypsin deficiency.
D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D013429:Sulfatases / Q000172:deficiency*; D014574:Uronic Acids / Q000652:urine; D019896:alpha 1-Antitrypsin Deficiency
D006025:Glycosaminoglycans; D014574:Uronic Acids; D013429:Sulfatases