Last update Nov. 23, 2019

Infant Galactosemia


Very unsafe. Contraindicated. Use of an alternative or cessation of breastfeeding. Read the Commentary.

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).

See below the information of these related products:

Suggestions made at e-lactancia are done by APILAM team of health professionals, and are based on updated scientific publications. It is not intended to replace the relationship you have with your doctor but to compound it. The pharmaceutical industry contraindicates breastfeeding, mistakenly and without scientific reasons, in most of the drug data sheets.

Jose Maria Paricio, Founder & President of APILAM/e-Lactancia

Your contribution is essential for this service to continue to exist. We need the generosity of people like you who believe in the benefits of breastfeeding.

Thank you for helping to protect and promote breastfeeding.

José María Paricio, founder of e-lactancia.


Infant Galactosemia belongs to this group or family:


  1. Carlock G, Fischer ST, Lynch ME, Potter NL, Coles CD, Epstein MP, Mulle JG, Kable JA, Barrett CE, Edwards SM, Wilson E, Fridovich-Keil JL. Developmental Outcomes in Duarte Galactosemia. Pediatrics. 2019 Jan;143(1). pii: e20182516. Abstract Full text (link to original source) Full text (in our servers)
  2. McCandless SE. Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia. Pediatrics. 2019 Jan;143(1). pii: e20183292. Abstract
  3. GARD - Genetic and Rare Diseases Information Center Galactosemia. Information in English. 2018 Full text (link to original source) Full text (in our servers)
  4. Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017 Abstract Full text (link to original source) Full text (in our servers)
  5. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. Gene Reviews. 2017 Abstract Full text (link to original source) Full text (in our servers)
  6. Fridovich-Keil J, Bean L, He M, Schroer R. Epimerase Deficiency Galactosemia. Gene Reviews. 2016 Abstract Full text (link to original source) Full text (in our servers)
  7. GARD-Genetic and Rare Diseases Information Center Galactosemia. Información en Español. 2015 Full text (link to original source) Full text (in our servers)
  8. Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. JIMD Rep. 2015 Abstract Full text (link to original source) Full text (in our servers)
  9. Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Duarte Variant Galactosemia. Gene Reviews. 2014 Abstract Full text (link to original source) Full text (in our servers)
  10. Lawrence RM. Circumstances when breastfeeding is contraindicated. Pediatr Clin North Am. 2013 Feb;60(1):295-318. Abstract
  11. Singh R, Ram J, Kaur G, Prasad R. Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. Curr Eye Res. 2012 Abstract
  12. Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr Res. 2002 Abstract
  13. Lewis V, Welch F, Cherry F, Flood E, Marble M. Galactosemia: clinical features, diagnosis and management. A case report. J La State Med Soc. 1995 Abstract

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