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Article

Clinical features of galactokinase deficiency:A review of the literature

1 Feb 2003

Abstract excerpt

Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive inborn error of galactose metabolism. Cataract and, rarely, pseudotumor cerebri caused by galactitol accumulation seem to be the only consistently reported abnormalities in this disorder. We performed a literature search to obtain information on the clinical spectrum of galactokinase deficiency. A total of 25 publications were traced...

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PMID: 12705493
DOI: 10.1023/a:1022875629436

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