DISEASE: Lysyl hydroxylase 3 deficiency
Lysyl hydroxylase 3 deficiency;
Bone fragility with contractures arterial rupture and deafness
Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders. In addition to lysyl hydroxylase activity, LH3 has also collagen galactosyltransferase and glucosyltransferase activities. It has been reported that one mutation dramatically reduced the sugar-transfer activity of LH3.
Human diseases [BR:
Other congenital malformations
H01192 Lysyl hydroxylase 3 deficiency
Other types of O-glycan biosynthesis
Salo AM, Cox H, Farndon P, Moss C, Grindulis H, Risteli M, Robins SP, Myllyla R
A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.
Am J Hum Genet 83:495-503 (2008)
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