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Newborns to Adults 18+

Screening and monitoring of patients

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Newborn Screening

Galactosemia screening methods for newborns

Classic Galactosemia is suspected in individuals with the following newborn screening results, clinical features, family history, and supportive laboratory findings1:

Newborn screening utilizes a small amount of blood obtained from a heel prick to quantify2:

  • Total content of erythrocyte galactose-1-phosphate and blood galactose concentration1
  • Erythrocyte GALT enzyme activity1
  • Biallelic pathogenic variants in GALT1

State Newborn Screening (NBS) programs vary as to which of these tests is performed and in what sequence.1

Early reactions in Galactosemia

Monitoring methods for newborns

A newborn with Classic Galactosemia experiences life-threatening complications within days after ingesting breast milk or a lactose-containing formula. Without dietary galactose restriction, manifestations of Galactosemia include: feeding problems, failure to thrive, liver damage, lethargy, seizures, and sepsis (mostly E. coli).1,3

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References

  1. Berry GT. Classic galactosemia and clinical variant galactosemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews®. Seattle (WA): University of Washington; February 4, 2000.
  2. Baby's First Test. Newborn Screening 101. Updated October, 2018. Accessed October 12, 2020. https://www.babysfirsttest.org/newborn-screening/screening-101
  3. Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171-176. doi:10.1007/s10545-016-9990-5
  4. Otaduy MCG, Leite CG, Lacerda MTC, et al. Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment. AJNR. 2006;27:1-4.
  5. Berry GT, et al. In vivo evidence of brain galactitol accumulation in an infant with Galactosemia and encephalopathy. J Ped. 2001;138(2):260-262.
  6. Schadewaldt P, et al. Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Gen and Metab. 2004;(81):31-44.
  7. Bosch AM. Classic galactosemia: dietary dilemmas. J Inherit Metab Dis. 2011;34:257-260.
  8. Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, et al. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis. 2011;34:357-366.
  9. Fridovich-Keil J, Bean L, He M, et al. Epimerase deficiency galactosemia. 2011 [Updated 2016 Jun 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020.
  10. Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I. Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis. 2017;40:325-342. doi:10.1007/s10545-017-0029-3
  11. Forges T, et al. Pathophysiology of impaired ovarian function in galactosemia. Human Reprod. 2006;12(5):573-584.
  12. Waisbren SE, Potter NL, Gordon CM, et al. The adult galactosemic phenotype. J Inherit Metab Dis. 2012;35(2):279-286. doi:10.1007/s10545-011-9372-y
  13. Rubio-Gozalbo ME, Haskovic M, Bosch AM, et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019;14(1):86. doi:10.1186/s13023-019-1047-z