Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and alpha 1-antitrypsin deficiency.

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 alpha 1-antitrypsin deficiency.

• Authors: J B Nielsen, F Güttler, N Hobolth, T Tønnesen, O D Pedersen, C Lykkelund, F Rosleff
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 145 Issue 6 Pg. 572-5 (Dec 1986) ISSN: 0340-6199 [Print] Germany
• PMID: 2949978 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glycosaminoglycans
• Uronic Acids
• Sulfatases

Topics

• Fibroblasts (metabolism)
• Glycosaminoglycans (urine)
• Humans
• In Vitro Techniques
• Infant
• Liver (pathology)
• Male
• Mucopolysaccharidosis II (genetics, pathology)
• Phenotype
• Sulfatases (deficiency)
• Uronic Acids (urine)
• alpha 1-Antitrypsin Deficiency