GALACTOSEMIA: A CASE STUDY

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.