Cohen syndrome with high urinary excretion of hyaluronic acid.
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.
Okamoto
N
N
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
Hatsukawa
Y
Y
Arai
H
H
Goto
M
M
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
D006820:Hyaluronic Acid