Zaburzenia metabolizmu węglowodanów powodowane mutacjami i rola diety jako terapii. I. Galaktozemia

Leszek Szablewski¹, Anna Skopińska

Summary
Galactosemia is an autosomal, recessive metabolic disorder resulting from the inability to metabolize of galactose. Galactosemia is caused by mutations in genes coding enzymes: GALK, GALT and GALE. Depending on the mutation, clinical manifestations can range from an asymptomatic to an acute. Treatment is based on elimination of galactose and lactose from the diet. Diet without galactose and source of this monosaccharide can ease the symptoms or privent them. Dietary restriction is, as yet, the only method of managing galactosemia.

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