Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid.
The uptake of ascorbic acid by cultured skin fibroblasts from two siblings with Ehlers-Danlos syndrome type VI, in extracts of which there is no deficit in lysyl hydroxylase activity, was found to be normal. Decreased availability of ascorbic acid to lysyl hydroxylase in cellula cannot, therefore, provide an explanation for the disorder in these patients, the cause of which remains obscure.
Royce
P M
PM
Department of Paediatrics, University of Zürich, Switzerland.
Moser
U
U
Steinmann
B
B
D000293:Adolescent; D000328:Adult; D001205:Ascorbic Acid / Q000493:pharmacokinetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D008297:Male; D006899:Mixed Function Oxygenases / Q000378:metabolism*; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000378:metabolism*
D006899:Mixed Function Oxygenases; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; D001205:Ascorbic Acid