CLASSIC GALACTOSEMIA

CLASSIC GALACTOSEMIA

Overview and Facts

Classic galactosemia, otherwise called type I galactosemia, is the most widely recognized and most extreme type of the condition. If newborn children with classic galactosemia are not treated immediately with a low-galactose diet, dangerous complications may show up within a couple of days after birth. Affected babies may have feeding challenges, a lack of energy, an inability to put on weight and grow, yellowing of the skin and whites of the eyes, liver damage, and unusual bleeding.

Classic galactosemia is brought about by changes in the GALT (9p13) gene encoding the galactose-1-phosphate uridyltransferase enzyme. Mutations that seriously weaken chemical actions result in the classic galactosemia phenotype.

Types and Symptoms

Symptoms

    • Failure to thrive, and signs of liver damage
    • Jaundice
    • Bleeding tendency
    • Hypoglycemia

Diagnosis & Medications

Diagnosis

Diagnosis can be affirmed by measuring the applicable metabolites, chemical activities and GALT gene mutational examination. Pre-birth testing is usually performed through gene mutational investigation by chorionic villus sampling. In relatives who are at high risk, testing is additionally conceivable to look for changes when recognized in a family.

Treatment

Treatment depends basically on galactose restriction in the diet. Newborn children need to be nourished with soy formula or other lactose-free formulation. Patients are encouraged to pursue a long term diet. To counteract decreased bone mass, calcium, as well as vitamin D and vitamin K supplements, are prescribed if the dietary intake does not meet the suggested day by day requirements. Observing psychological and motor development, gonadal function and bone mass is necessary. Eye examinations are suggested if there are neonatal cataracts or if there should be an occurrence of poor dietary intake. Regardless of dietary treatment, long-term complications may arise.

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