Title: Disorders of galactose, pentose, and pyruvate metabolism
Abstract: Galactose is principally found as free lactose in dairy products; the sugar moiety also occurs as a dietary component in glycoproteins and complex lipids. Three inborn errors of galactose metabolism are recognized: Galactokinase deficiency (‘galactose diabetes’)—a very rare condition which impairs the assimilation of dietary galactose that is normally initiated by phosphorylation, principally in the liver; the free sugar and its metabolites, galactonic acid and galactitol, appear in plasma and the urine. Conversion of galactose to osmotically active galactitol in tissues causes premature cataracts and occasionally pseudotumor cerebri in infants. The abnormalities may be ameliorated by early institution of a galactose- and lactose-free diet....
Publication Year: 2010
Publication Date: 2010-05-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
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