Last update: Nov. 23, 2019

Infant Duarte galactosemia (DG)

Very Low Risk for breastfeeding


Safe. Compatible.
Minimal risk for breastfeeding and infant.

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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Suggestions made at e-lactancia are done by APILAM´s pediatricians and pharmacists, and are based on updated scientific publications.
It is not intended to replace the relationship you have with your doctor but to compound it.

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.

Group

Infant Duarte galactosemia (DG) belongs to this group or family:

References

  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. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. Gene Reviews. 2017 Abstract 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. 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)
  6. 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)
  7. Lawrence RM. Circumstances when breastfeeding is contraindicated. Pediatr Clin North Am. 2013 Feb;60(1):295-318. Abstract
  8. 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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