Cause and Laboratory Diagnosis

This autosomal recessive disorder is caused by deficient activity of the enzyme procollagen-lysine, 2-oxoglutarate 5 dioxygenase-1 (lysyl hydroxylase-1, PLOD), acollagen-modifying enzyme. Deficiency of this enzyme results in a deficiency in hydroxylysine-based pyridinoline crosslinks in types I and III collagen. As a result, cross-linked peptides are excreted in urine as by-products of collagen turnover. The diagnosis relies on the demonstration of the presence of an increased ration of deoxypyridinoline to pyridinoline cross-links in urine, quantitated by HPLC, which is a highly sensitive and specific test.[15] Activity of the lysyl hydroxylase-1 can also be measured in cultured fibroblasts.[16] Molecular testing of the PLOD-1 gene is available on a research basis only. An intragenic duplication caused by an Alu-Alu recombination in in-trons 9 and 16 is the only common mutant allele, with a frequency of 19% in 35 families with EDS, kyphoscoli-otic form.[17]

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment