RCMM Patient care
Patients suspected to suffer from a mitochondrial disorder are nearly always referred to the RCMM by pediatricians, internists or neurologists and occasionally by general practitioners.The suspicion that a patient suffers from a mitochondrial disorder is mostly based on clinical presentation/course, results of laboratory metabolic screening studies in body-fluids and (neuro-)imaging results. Laboratory screening in general exists of measurement of lactate and pyruvate concentrations in blood and/or cerebrospinal fluid (CSF), amino-acid analysis in blood, urine and/or CSF, and organic acid analysis in urine. Occasionally, in patients with enzymatic and molecular established defects, these results may be normal. After written consultation, patients and their parents are seen first at the outpatient paediatric clinic or the internal medicine outpatient clinic by one of the RCMM clinicians. That moment, the additional necessary diagnostic steps are discussed and planned. If necessary, children are admitted at ward Q2Strand of the University Children's Hospital. Adults are either admitted at the internal medicine department or at the department of Neurology.
Children from abroad are, after consultation, mostly directly admitted to ward Q2Strand. They need a so-called E112 form given by their insurance compagny. The University Medical Centre Nijmegen has facilities available for overnight stay for parents. Arrangements for this can be made via our ward Q2Strand.
Diagnostics / forms
Each year, the RCMM receives samples of patients from all over the world for diagnostic analysis of mitochondrial disorders. We offer biochemical, histological and genetic analysis of frozen tissue samples, cultured skin fibroblasts and blood/DNA samples. For hospitals located within 2h travel time from Nijmegen, biochemical analysis of fresh muscle samples is offered as well. In addition, we perform biochemical and genetic tests for prenatal diagnostics of mitochondrial disorders.
Detailed information on specific diagnostic tests and on shipment of samples can be found on on our Diagnostics pages.
The RCMM performs clinical research on various levels. Please find more information on our clinical research webpage.