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LOWE'S SYNDROME: Absence of Amino Acid Transport Defect in Cultured Fibroblasts
Author(s) -
BARTSOCAS CHRISTOS S.,
ERBE RICHARD W.
Publication year - 1973
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1973.tb17073.x
Subject(s) - medicine , glycine , lysine , amino acid , abnormality , fibroblast , amino acid metabolism , biochemistry , pathology , endocrinology , in vitro , metabolism , biology , psychiatry
SUMMARY Transport of lysine and glycine was studied in cultured fibroblasts of a patient with Lowe's oculocerebrorenal syndrome. Although patients with this syndrome demonstrate renal and intestinal amino acid transport defects, no abnormality was found in our study.