Galactosemia: A Case Study

Eileen K. Hutton, RM, MNSc Tory Tudor, RM, BHSc Remi Ejiwunmi, RM, BHSc

ABSTRACT

Inborn errors of metabolism often manifest with varied clinical presentations in the neonatal period. Prevention of morbidity or mortality is frequently contingent on early diagnosis. Midwives have a role to play in recognizing symptoms that may be consistent with such a diagnosis. This paper describes the clinical findings in the case of a newborn in midwifery care who was diagnosed with galactosemia on day 10. This metabolic disorder is described and midwifery implications arising from this case are discussed.

KEY WORDS 
galactosemia, midwifery, case study, metabolism, inborn errors