Maastricht University Medical Center

Maastricht, NETHERLANDS

Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network

Carbohydrate, fatty acid oxidation and ketone body disorders (C-FAO)
Highly specialized in Classic Galactosemia
Carbohydrate, fatty acid oxidation and ketone body disorders (C-FAO)
Highly specialized in Classic Galactosemia
The MUMC+ galactosemia is a tertiary referral center recognized as national center of expertise by the Dutch Patient Organization for galactosemia and the Ministery of Health,Welfare and Sport in The Netherlands. Galactosemia is a genetic metabolic disorder that usually presents in the neonatal period as a life-threatening disease. Current standard of treatment – a galactose-restricted diet – although life-saving in the newborn fails to prevent the chronically-debilitating complications, such as cognitive, psychosocial and fertility impairments, therefore requiring complex multidisciplinary care. Our working group involves Pediatrics, lnternal Medicine, Neurology, Clinical Genomics, Dietetics and many other departments. Furthermore, our center took the lead in the development of an international network for galactosemia – GalNet (www.galactosemianetwork. org). The GalNet focuses on the advancement of research, diagnosis, treatment and follow-up care of galactosemic patients by close collaboration among the various stakeholders, clinicians, researchers, nutritionists, and patients and families. lt includes professionals from 19 countries, and was founded with great support of the European Galactosemia Patient Association.

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

MUMC+ is one of two centers of expertise in the Netherlands, working closely together. The broad spectrum of complications experienced by galactosemia patients require specific expertise, a dedicated multidisciplinary team, and an holistic approach to the management and treatment of these patients. Additionally, prenatal genetic screening can be performed,  if desired by the families.
The galactosemia group at the MUMC+ has done intensive research on galactosemia over the past decade, studying cognitive, fertility and bone impairments in this disease. Recently the group has developed a zebra fish galactosemia model.
Besides the care for galactosemia patients, our metabolic unit is fully prepared and equipped to diagnose, follow and treat a wide range of patients with distinct metabolic disorders. We participate in Registries and database collection, and coordinate the galactosemia international patient registry. We contribute also very actively in the development of clinical guidelines and clinical training programs.. A clinical trial unit facility is available.

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    M Estela Rubio-Gozalbo

    Maastricht University Medical Center

    Martijn C G J Brouwers

    Maastricht University Medical Center