Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.
Two sibs with the Ehlers-Danlos syndrome, one of whom was shown to have hydroxylysine-deficient collagen, are described. In addition to the usual features of the Ehlers-Danlos syndrome (loose-jointedness and excessively stretchable, fragile, and bruisable skin), these patients had severe scoliosis and fragility of ocular tissues leading to rupture of the globe or retinal detachment. This combination of symptoms was tentatively classified as Ehlers-Danlos syndrome, Type VI. The condition is inherited as an autosomal recessive. The activity of lysyl hydroxylase was present at a reduced level in fibroblasts cultured from the patient's skin.
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003095:Collagen Diseases / Q000150:complications*; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D005808:Genes, Recessive; D006801:Humans; D006901:Hydroxylysine / Q000172:deficiency*; D007656:Ketoglutaric Acids; D008239:Lysine; D008297:Male; D008875:Middle Aged; D006899:Mixed Function Oxygenases / Q000032:analysis; D010375:Pedigree; D011393:Procollagen-Proline Dioxygenase / Q000032:analysis
D007656:Ketoglutaric Acids; D006901:Hydroxylysine; D006899:Mixed Function Oxygenases; D011393:Procollagen-Proline Dioxygenase; D008239:Lysine