M. Langeveld MD PhD

Medical Specialist
Main activities
Patient care, Research
Inherited metabolic disorders
Focus of research

My research focusses on inherited metabolic diseases in adults, with an emphasis on lysosomal storage disorders (LSDs) and fatty acid oxidation disorders (FAOD). LSD research is embedded in SPHINX, a collaboration of the departments of Radiology, Internal Medicine and Paediatrics and the Laboratory of Genetic and Metabolic Diseases of the AMC. Within the LDSs, my main focus is Fabry disease, I lead the following research projects, supervising 3 PhD students: 1. characterisation and consequences of the antibody response to enzyme replacement therapy (PhD student: Sanne van der Veen) 2. cognitive symptoms in Fabry disease and their relation to white matter abnormalities (PhD student: Simon Korver) 3. the natural history and consequences of cardiac pathology in Fabry disease (PhD student: Mohamed el Sayed). In addition I'm the local PI for international trials studying the safety and efficacy of a new form of enzyme replacement therapy. Recently, we launched an open access Fabry genotype phenotype website:, providing open access to a large international database, simplifying interpretation of detected GLA gene variants. In my previous position at the Erasmus MC, I was the main supervisor of a PhD project on skeletal complications in two LSDs, the mucopolysaccharidosis and mucolipidosis (PhD student Esmee Oussoren).

In the field of fatty acid oxidation disorders, my research currently focusses on primary carnitine deficiency (collaboration with UMC Utrecht). PhD student Loek Crefcoeur performs studies on the natural history and the usefulness and feasibility of newborn screening for this disorder. 

Other research activities are a an exploratory study into the role the microbiome in urea cycle disorders and a project on discovery of inborn errors of metabolism in patients with an unexplained disorders (Zoektocht Erfelijke Metabole Aandoeningen (ZOEMBA) study.

I'm secretary of the adult metabolic physicians working group of the Society for Study of Inborn Errors of Metabolism (SSIEM, and as such involved in organising sessions at the yearly SSIEM conference and setting up a new Adult Inborn Errors of Metabolism training course. I’m an active member of the Internisten voor Erfelijke Stofwisselingsziekten (INVEST) group and coordinated the construction of the INVEST website ( containing information on care of adults with inherited metabolic disorders in the Netherlands and Belgium (Vlaanderen). 

Key publications
  • van der Veen S. J., van Kuilenburg A. B. P., Hollak C. E. M., Kaijen P. H. P., Voorberg J., Langeveld M. Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment Molecular genetics and metabolism 2019;126 (2):162-168 [PubMed]
  • Körver Simon, Geurtsen Gert J., Hollak Carla E. M., van Schaik Ivo N., Longo Maria G. F., Lima Marjana R., Vedolin Leonardo, Dijkgraaf Marcel G. W., Langeveld Mirjam Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease Scientific reports 2019;9 (1) [PubMed]
  • Langeveld M., Hollak C. E. M. Bone health in patients with inborn errors of metabolism Reviews in endocrine & metabolic disorders 2018;19 (1):81-92 [PubMed]
  • Oussoren Esmee, Mathijssen Irene M. J., Wagenmakers Margreet, Verdijk Rob M., Bredero-Boelhouwer Hansje H., van Veelen-Vincent Marie-Lise C., van der Meijden Jan C., van den Hout Johanna M. P., Ruijter George J. G., van der Ploeg Ans T., Langeveld Mirjam Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure Journal of inherited metabolic disease 2018;41 (6):1247-1258 [PubMed]
  • Oussoren Esmee, van Eerd David, Murphy Elaine, Lachmann Robin, van der Meijden Jan C., Hoefsloot Lies H., Verdijk Rob, Ruijter George J. G., Maas Mario, Hollak Carla E. M., Langendonk Janneke G., van der Ploeg Ans T., Langeveld Mirjam Mucolipidosis type III, a series of adult patients Journal of inherited metabolic disease 2018;41 (5):839-848 [PubMed]
All Publications
Curriculum Vitae

Personal information

Family name, First name: Langeveld, Mirjam

Researcher unique identifier(s):

Date of birth: 18-12-1977

Nationality: Dutch

URL for web site:


Education, current and previous positions 

January 2017-current

Internist endocrinologist-specialist for adults with inherited metabolic disorders, Amsterdam UMC, location AMC, Amsterdam

Principle Investigator

September 2014-December 2016

Internist endocrinologist-specialist for adults with inherited metabolic disorders, Erasmus Medical Center, Rotterdam

March 2013-December 2014

Honorary clinical fellowship, Institute of Metabolic Science, University of Cambridge (part-time)

(Pre)clinical research on adaptive thermogenesis and body weight regulation

September 2012 –August 2014

Fellowship Endocrinology, Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam

April 2010 – April 2011

Postdoctoral research associate, Institute of Metabolic Science, University of Cambridge

(Pre)clinical research on adaptive thermogenesis and body weight regulation

October 2005 – August 2012 

Clinical internship, Department of Internal Medicine, Academic Medical Center, University of Amsterdam

April 2004 – April 2009

PhD, Department of Medical Biochemistry and Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam

Research on the role of glycosphingolipids in metabolism

Promotors: prof Carla Hollak (AMC, department of Endocrinology and Metabolism) and prof Hans Aerts (AMC, department of Biochemistry)

February 2001 – January 2002 

Research internship at the department of Experimental Immunology, Academic Medical Center, University of Amsterdam

Phenotypic analysis of splenic T cells

September 1997 – April 2004

MD, Academic Medical Center, University of Amsterdam

September 1996 – March 1999

Medical biology, University of Amsterdam 


Fellowships and awards

-EFSD Albert Renold Travel Fellowship, 2013

-Marie Curie Intra-European Fellowship (KP7), 2010

-Oral presentation award, European Study Group on Lysosomal Disease, 2009

-Poster award, European Working Group on Gaucher Disease, 2008


Supervision of graduate students and postdoctoral fellows

Supervision of PhD students (copromotor):

  1. Esmee Oussoren, research on skeletal complications in mucopolysaccharidoses and mucolipidoses, PhD defence November 2018, Erasmus MC
  2. Simon Korver, research on neuropsychological aspects of Fabry disease, PhD defence expected January 2020, Amsterdam UMC
  3. Sanne van der Veen, research on the antibody response against enzyme replacement therapy in Fabry disease, started PhD project in 2017, Amsterdam UMC
  4. Mohamed El Sayed, started his PhD project in 2018, research on cardiac complications of Fabry disease, Amsterdam UMC
  5. Elise Termeulen, started her PhD project in 2019, research on advanced diagnositics for inborn errors of metabolism, Amsterdam UMC
  6. Loek Crefcoeur, research on primary carnitine deficiency, started his PhD project in 2018, UMC Utrecht and Amsterdam UMC  

Teaching activities

Over the past ten years I have been involved in the teaching medical students (lectures workshop) in the field of nutrition as well as inborn errors of metabolism. In addition, I have organised and been involved in tuition of internists, psychiatrists and neurologist on the topic of inborn errors of metabolism. I’m part of an international collaboration dedicated to developing international education and training for clinicians involved in care for adult patients with inborn errors of metabolism.


Organisation of scientific meetings

As secretary of the adult committee of the Society for Inborn Errors of Metabolism I organise scientific sessions at the yearly SSIEM international conference.


Involvement in international drug trials

Principal investigator at the AMC of two international industry initiated treatment trials in Fabry disease:

F20-Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function (BALANCE)

F30- Extension Study of 1 mg/mL Pegunigalsidase Alfa in Patients With Fabry Disease (BRIDGE)


Memberships of scientific societies

European Fabry Working Group (EFWG)

Society for the Study of Inborn Errors of Metabolism (SSIEM); Secretary of the adult committee

Erfelijke Stofwisselingsziekten Nederland (ESN)

Internisten voor Volwassenen met een Erfelijke Stofwisselingsziekten (INVEST)

Research programmes

Prof. C.E.M. Hollak PhD (Natural history, pathophysiology and treatment of lysosomal storage disorders and regulatory science of orphan drugs)

Current research funding
  • IQVIA RDS Netherlands B.V.
  • Nederlandse Internisten Vereniging
  • Protalix Ltd.
  • RIVM