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Disorders of galactose, pentose, and pyruvate metabolism 

Disorders of galactose, pentose, and pyruvate metabolism
Disorders of galactose, pentose, and pyruvate metabolism

T.M. Cox



Galactosaemia—(1) Description of gene-expression profiling and proteomic studies that give new insights into pathophysiology and pathology. (2) Expanded discussion of matters related to fertility in women, and of general prognosis.

Substantial updating of sections on (1) epimerase deficiency; (2) pentosuria—new genetic information; (3) treatment of pyruvate dehydrogenase deficiency; (4) diagnosis and treatment of pyruvate decarboxylase deficiency.

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date: 19 September 2021

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....

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