Urinary Pyridinium Cross-Links: A Noninvasive Diagnostic Test for Ehlers-Danlos Syndrome Type VI

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Abstract
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 collagen1,2. 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.