title: Cohen syndrome with high urinary excretion of hyaluronic acid.
abstract: 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 Cohen 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.
authors.affiliation: Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Hatsukawa
authors.forename: H
authors.initials: H
authors.lastname: Arai
authors.forename: M
authors.initials: M
authors.lastname: Goto
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000652:urine*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006820:Hyaluronic Acid / Q000652:urine*; D008607:Intellectual Disability / Q000175:diagnosis / Q000652:urine; D007970:Leukopenia / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000652:urine; D008831:Microcephaly / Q000175:diagnosis / Q000652:urine; D009765:Obesity / Q000175:diagnosis / Q000652:urine; D013577:Syndrome
chemical_list: D006820:Hyaluronic Acid