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Galactosemia is a congenital metabolic disease of autosomal recessive inheritance, due to lack or reduction of one of the three enzymes that metabolize galactose transforming it into glucose.
Lactose, the milk sugar of mammals is a disaccharide formed by the union of monosaccharides galactose and glucose.
When milk lactose is broken down, if galactose can not be metabolized, its accumulation in the liver, brain, kidneys and other organs can cause jaundice, weight loss, vomiting, severe cerebral, hepatic, ocular symptoms (cataracts) and sepsis from E. Coli in the immediate neonatal period (Berry 2017, Pyhtila 2014, Lewis 1995).
DUARTE VARIANT GALACTOSEMIA:
Unlike the type I or classical form of galactosemia in which there is a profound Galactose-1-phosphate uridyl transferase (GALT) deficit, below 10% of the normal rate and in which all products with lactose or galactose are contraindicated, including breast milk (Welling 2017, Berry 2017, Lawrence 2013), in the Duarte variant galactosemia, with a frequency of 1 / 4,000 births, there is reduced GALT activity to 13% -50% of its normal value and different genetic alteration (Fridovich 2014).
Duarte variant galactosemia is usually asymptomatic (Fridovich 2014).
Although there has been controversy (Berry 2017, Pyhtila 2014, Fridovich 2014), more recent international guidelines do not discourage breastfeeding in Duarte galactosemia (Welling 2017).
A recent study with rigorous methodology and large number of cases found no increased risk of neurological deficits in children aged 6 to 12 years of age with Duarte galactosemia, nor among those exposed to breast milk during the nursing period (Carlock 2019).
Duarte galactosemia is not associated with an increased risk of developmental abnormalities and does not require suspension of breastfeeding or dietary restrictions (Carlock 2019, McCandless 2019).
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