Overexcretion of low-sulphated chondroitin sulphate in the urine of the patient resembling progeroid.
We report an unusual case with mental retardation, short stature, sparse scalp hair, prominence of scalp veins, atrophy of subcutaneous fat, pterygia of the neck and loose skin. The patient excreted greater amounts of low-sulphated chondroitin sulphate (LSC) in the urine than age-matched controls. The pattern of glycosaminoglycan in serum and its synthesis by the patient fibroblasts were normal. Collagen, elastin and decorin mRNA levels in the patient fibroblasts were also unaltered. These results suggest that this patient seems to be different from Lowe's syndrome and decorin-deficient progeroid. An abnormal LSC metabolism may be partially responsible for the pathology of these syndromes.
Inazumi
T
T
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Tajima
S
S
Nishikawa
T
T
D000015:Abnormalities, Multiple / Q000652:urine; D002478:Cells, Cultured; D002648:Child; D002809:Chondroitin Sulfates / Q000652:urine*; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000096:biosynthesis / Q000097:blood; D006801:Humans; D008297:Male; D011371:Progeria / Q000652:urine*
D006025:Glycosaminoglycans; D002809:Chondroitin Sulfates