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Metabolism of collagen in aspartylglycosaminuria: Urinary excretion of hydroxyproline
Author(s) -
NäntöSalonen K.,
Autio S.,
Härö E.,
Kivimäki T.,
Koskela S. L.,
Näntö V.,
Penttinen R.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801767
Subject(s) - hydroxyproline , connective tissue , fibroblast , medicine , endocrinology , excretion , metabolism , urinary system , chemistry , biology , biochemistry , pathology , in vitro
Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation characterized by severe mental retardation and connective tissue alterations. We have previously described low collagen production in skin fibroblast cultures from AGU patients. In the present work we showed that the urinary excretion of hydroxyproline (total, non‐dialysable and free hydroxyproline as indicators of collagen metabolism) was reduced in young AGU patients in comparison with age‐matched controls. In adult patients no significant difference was detected. The results support the view that reduced collagen production is associated with the connective tissue abnormalities in this disorder.