Cohen syndrome with high urinary excretion of hyaluronic acid

✍ Scribed by Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Arai, Hiroshi; Goto, Makoto

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 4 KB
• Volume: 76
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19980413)76:5<387::aid-ajmg4>3.0.co;2-k

✦ Synopsis

Cohen syndrome (MIM 216550) is an autosomal recessive disorder of unknown pathogenesis. The clinical manifestations of Cohen syndrome can be explained as a connective tissue disorder. We found a remarkably high level of urinary hyaluronic acid in 3 patients with Cohn syndrome. Hyperhyaluronic aciduria is a characteristic finding in Werner syndrome and some other conditions. We suggest that the basic defect of Cohen syndrome is associated with a metabolic abnormality in the extracellular matrix. Am.