Galactosemia

GalactosemiaHumans are complex creatures and caring for them is challenging (to say the least). In order to provide superior care for all of the kids we see, we need to know the critical (ex, SHOCK, Difficult Airway, and Necrotizing Enterocolitis), the common (ex, Bronchiolitis, Asthma, and Gastroenteritis), and the unusual (ex, Gradenigo’s, Moyamoya, and ALCAPA). We also have to remember biochemistry and genetics. Yes, even in the ED, these topics come up. Recently, we discussed a primer on infant formulas, one of which is a Soy-based formula. One indication for such a formula is an important condition for us to recall – Galactosemia:

 

Galactosemia: Basics

  • A common Inborn Error of Metabolism(IEM)
    • Individual IEM are rare, but collectively they are common.
    • Galactosemia rates in the US are ~1 in 50,000.
  • Characterized by elevated levels of galactose in the blood. [Lavine, 2015]
    • Infants get galactose from digesting the sugar in milk – lactose.
    • Lactose is a disaccharide sugar (glucose and galactose).
  • There are several forms, but the most classic is due to deficiency of Galatose-1-Phosphate Uridyltransferase (GALT).
  • Toxic metabolites build up and have direct effects on the liver and other organs. [Burton, 1998]
  • Consumption of lactose will lead to symptoms quickly. [Lavine, 2015]
    • Classic galactosemia usually presents within the first 2 weeks of life (great, just when all of the other oddities occur).
    • May become symptomatic even during the first week of life.
  • Despite avoiding galactose, can still have long term sequela. [Lavine, 2015]
    • Cognitive impairment
    • Growth delay
    • Speech delay
    • Ataxia
    • Ovarian failure
  • Can lead to brain damage and death.
  • Screened for with Newborn Screening tests, but: [Lavine, 2015; Burton, 1998]
    • Not everywhere does newborn screening test for galactosemia
    • Test results may not have resulted by the time the child becomes ill

 

Galactosemia: Presentation

  • Patients with classic galactosemia are at risk for sepsis due to E. coli.

 

Galactosemia: Management

  • Do what you do best — stabilization.
    • Have very low threshold for treating like Sepsis.
    • Start empiric antibiotics that will cover E. coli.
  • When considering undiagnosed galactosemia in the ED, check for urine reducing substances.
    • Symptomatic children will often have >2+ reducing substances.
    • This is not good enough to rule out the illness.
  • Check for and treat hyperbilirubinemia.
  • Need to avoid all galactose.
    • Galactose free diet.
    • Some medications even contain galactose.

 

Moral of the Morsel

  • Don’t forget about genetics and biochemistry! (ok, you don’t have to remember all of the details… but know it is important!)
  • The Newborn Screen won’t save you. Patients may present before the results of the screen are known.
  • Consider Galactosemia in the ill-appearing neonate, especially less than 2 weeks of age.

 

References

Lavin LR1, Higby N, Abramo T. Newborn Screening: What Does the Emergency Physician Need to Know? Pediatr Emerg Care. 2015 Sep;31(9):661-7; quiz 667-9. PMID: 26335232. [PubMed] [Read by QxMD]

Berry GT1. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab. 2012 May;106(1):7-11. PMID: 22483615. [PubMed] [Read by QxMD]

Burton BK1. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998 Dec;102(6):E69. PMID: 9832597. [PubMed] [Read by QxMD]

Sean Fox

I enjoy taking care of patients and I finding it endlessly rewarding to help train others to do the same. I trained at the Combined Emergency Medicine and Pediatrics residency program at University of Maryland, where I had the tremendous fortune of learning from world renown educators and clinicians. Now I have the unbelievable honor of working with an unbelievably gifted group of practitioners at Carolinas Medical Center. I strive every day to inspire my residents as much as they inspire me.

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