lysyl hydroxylase 3 deficiency

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lysyl hydroxylase 3 deficiency2016-10-22T14:51:00+00:00

lysyl hydroxylase 3 deficiency

CONNECTIVE TISSUE

Definition An inherited connective tissue disorder (OMIM:612394) characterised by multiple severe congenital malformations involving COL2A1 and other collagen gene products, which affects many tissues and organs.

Pathogenesis The clinical manifestations are in keeping with a failure of lysyl hydroxylation and lack of addition of carbohydrates to hydroxylysyl groups, which affects many collagens. 

Molecular pathology Defects of PLOD3, which encodes an enzyme* that hydroxylates lysyl residues in collagen-like peptides, providing attachment sites for carbohydrates in collagen and thus are critical for intermolecular crosslink stability, cause lysyl hydroxylase 3 deficiency.

*Procollagen-lysine—2-oxoglutarate 5-dioxygenase 3  

Synonyms Bone fragility—arterial rupture—and deafness, LH3 deficiency 

References http://www.uniprot.org/uniprot/O60568

http://www.omim.org/entry/612394

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