ISSN:
1432-1076
Keywords:
Hunter syndrome
;
α1-antitrypsin deficiency
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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 α1-antitrypsin deficiency.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02429071