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Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and α1-antitrypsin deficiencydeficiency

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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.

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Abbreviations

MPS:

mucopolysaccharides

CPC:

cetylpyridinium chloride

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Nielsen, J.B., Güttler, F., Hobolth, N. et al. Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and α1-antitrypsin deficiencydeficiency. Eur J Pediatr 145, 572–575 (1986). https://doi.org/10.1007/BF02429071

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  • DOI: https://doi.org/10.1007/BF02429071

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