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Revista chilena de nutrición

versión On-line ISSN 0717-7518

Resumen

CORNEJO E., Verónica  y  RAIMANN B., Erna. GALACTOSE METABOLISM DEFECT. Rev. chil. nutr. [online]. 2004, vol.31, suppl.1, pp. 170-176. ISSN 0717-7518.  http://dx.doi.org/10.4067/S0717-75182004031100004.

The abnormalities in the metabolism of galactose are due to defects of the enzymes galactokinase (GALK), galactose-1-phosphate uridyltranspherase (GAL1PUT) and uridine diphosfphate galactose 4' epimerase (UDPGAL). The most frequent of them is the deficiency of GAL1PUT. As a consequence of this defect galacose-1-phosphate, galactose and galactitol accumulated in blood and tissues producing hepatic, renal and cerebral disturbances. The mode of inheritance is autosomal recessive and the worldwide estimated incidence is in the order of 1:60.000 to 1:33.000 newborns. The most frequent symptoms and signs include refusal to feed, vomiting, diarrhoea, jaundice, lethargy, hepatomegaly and cataracts. If the disorder is not treated early the child may die. The treatment consists in the exclusion of lactose and galactose in the diet, including foods like all types of milk and its derivatives, galactose, and foods or medicaments containing galactose. Soy milk is prescribed and the micro and macronutrients requirements are calculated according to age and sex recommendations. The diet is lifelong because galactose is transformed in galactitol, existing risks of cataract formation and renal failure in any moment of life. A good control is obtained when galactose-1-phosphate blood levels are maintained below 3.0 mg/dl and the galactitol urinary level is below 0.8 mMol/mol creatinine

Palabras llave : galactosemia; galactose; galactito.

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