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Previous Volume 331:132-133 July 14, 1994 Number 2 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: Ehlers-Danlos syndrome type VI is an autosomal recessive disorder of connective tissue caused by mutations in the gene for collagen lysyl hydroxylase. This enzyme hydroxylates lysyl residues on newly synthesized intracellular collagen peptides, and its impairment results in a low hydroxylysine content in mature collagen^1,2. Diagnosis has required a large skin-biopsy specimen to demonstrate reduced amounts of hydroxylysine in skin collagen and defective lysyl hydroxylase in cultured skin fibroblasts. Here, we report that measurement of the urinary excretion of pyridinium cross-links serves as a simple, noninvasive diagnostic test for this disorder.

After extracellular secretion, specific lysyl . . . [Full Text of this Article]

References

This article has been cited by other articles:

• Vesper, H. W., Demers, L. M., Eastell, R., Garnero, P., Kleerekoper, M., Robins, S. P., Srivastava, A. K., Warnick, G. R., Watts, N. B., Myers, G. L. (2002). Assessment and Recommendations on Factors Contributing to Preanalytical Variability of Urinary Pyridinoline and Deoxypyridinoline. Clin. Chem. 48: 220-235 [Abstract] [Full Text]  
• Husain, S. M, Mughal, Z., Williams, G., Ward, K., Smith, C. S, Dutton, J., Fraser, W. D (1999). Urinary excretion of pyridinium crosslinks in healthy 4-10 year olds. Arch. Dis. Child. 80: 370-373 [Abstract] [Full Text]