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Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: In vivo and In vitro response to vitamin B 6
Author(s) -
Tada K.,
Saito T.,
Omura K.,
Hayasaka S.,
Mizuno K.
Publication year - 1981
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/bf02263591
Subject(s) - in vivo , in vitro , choroid , ornithine , ornithine aminotransferase , medicine , atrophy , endocrinology , retina , biology , biochemistry , pathology , neuroscience , genetics , amino acid , arginine
Three Japanese cases of hyperornithinaemia due to a defect in ornithine ketoacid transaminase are described. Different types of disease in responsiveness to vitamin B 6 were found. In vivo response to B 6 correlated with in vitro data.