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Erythrocytic uridine diphosphate galactose in galactosaemia.

Authors
  • 1
Type
Published Article
Journal
Journal of inherited metabolic disease
Publication Date
Volume
15
Issue
1
Pages
4–16
Identifiers
PMID: 1583875
Source
Medline

Abstract

An earlier claim of a deficiency of uridine diphosphate galactose in erythrocytes of galactosaemia patients was not confirmed. Enzymic techniques similar to those of the earlier investigators were used to determine not only the concentration of uridine diphosphate galactose but also the ratio of this concentration to the sum of the uridine sugar diphosphates (uridine diphosphate galactose and uridine diphosphate glucose). The values in erythrocytes of galactosaemic subjects were similar to those of non-galactosaemic children on a galactose-restricted diet and to those of normal adults. These results cast doubt on the claim of a major deficiency of uridine diphosphate galactose in galactosaemia and on the need for treating galactosaemic children with uridine.

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