Classic galactosemia: natural history and new treatment approaches

Research output: ThesisDoctoral ThesisInternal

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Newborns with classic galactosemia present with life-threatening symptoms upon exposure to galactose-containing milk. These symptoms can be quickly resolved by early initiation of a galactose- restricted diet. However, the long-term outcome is disappointing, many patients develop complications affecting brain, gonads and, to a lesser extent, bone. Importantly, this occurs irrespective of the severity of the illness in the newborn period and despite the early initiation of the diet.
The first objective of this research included describing the natural history of classic galactosemia based on a large cohort of patients. We aimed to provide more insights into the pathophysiology of classic galactosemia. In the past decades, a myriad of research has taken place to gain more insight in the complex pathophysiology of classic galactosemia. Nevertheless, the pathophysiology is still not fully understood. In this study several mechanisms that are involved have been studied. Furthermore, evaluating possible therapies that may prevent the occurrence of long-term complications, included the third aim of this research.
With funding from Metakids, Stofwisselkracht, Galactosemie Vereniging Nederland, European Galactosemia Society, Erfelijke Stofwisselingsziekten in het Nederlandse taalgebied, The Netherlands Organization for Health Research and Development (ZonMW)/ Netherlands Organization for Scientific Research (NWO), European Union's Horizon 2020 program.
Original languageEnglish
Awarding Institution
  • Maastricht University
  • Rubio Gozalbo, Estela, Supervisor
  • Zimmermann, Luc, Supervisor
  • Cruz Coelho, Ana, Co-Supervisor, External person
Award date2 Oct 2020
Place of PublicationMaastricht
Print ISBNs9789463809443
Publication statusPublished - 2020


  • classic galactosemia
  • metabolic disease
  • GALT deficiency
  • natural history
  • therapies

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