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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).
Depending on enzyme deficiency, there are 3 types of galactosemia with some variants within them (GARD 2015):
- Type I or Classic. There is a profound Galactose-1-phosphate uridyl transferase (GALT) deficit, below 10% of the normal rate. Frequency 1/50,000 births. This is the most serious form. All products with lactose or galactose are contraindicated, including breastmilk (Welling 2017, Berry 2017).
- - Variant or Duarte type Galactosemia. Frequency 1/4,000 births. There is reduced GALT activity at 13%-50% of its normal value and different genetic alteration; it is usually asymptomatic (Fridovich 2014). Although there has been controversy (Berry 2017, Pyhtila 2014, Fridovich 2014), more recent international guidelines and works do not discourage breastfeeding (McCandless 2019, Carlock 2019, Welling 2017).
- Type II. For galactokinase(GALK) deficiency. Frequency 1/100,000 births, but very frequent in the Romani ethnic group (Singh 2012, Hunter 2002). Cataracts as the only or almost only symptom. It requires dietary restriction of galactose (Singh 2012).
- Type III. Due to galactose epimerase (GALE) deficiency. Frequency 1/70,000 births. There are three types (Fridovich 2016):
- - Generalized: enzyme activity is deficient in all tissues; lactose should be excluded from the diet.
- - Peripheral: enzyme activity is deficient in red and white blood cells but not in other tissues; does not contraindicate breastfeeding.
- - Intermediate: enzyme activity is deficient in red and white blood cells and is 50% in other tissues; there is controversy about the amount of galactose that can be tolerated in the diet.
Some authors, given the difficulty of distinguishing between the three forms of GALE deficiency, advise halting breastfeeding in any case (Fridovich 2016).
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