The Adult Neurometabolic Rare Diseases Reference Center (CRMR) – Paris is located within the Genetics Department of the Groupe Hospitalier Pitié-Salpêtrière. The Center specializes in the diagnosis, care, and treatment of adult patients with inherited metabolic disorders, primarily those with neurological and psychiatric manifestations.
As part of the Rare Diseases Health Network G2M, the CRMR’s mission is twofold: to continue providing adult care for patients diagnosed in childhood, and to diagnose and treat a growing number of patients whose metabolic disorder begins in adulthood, often presenting as motor and/or cognitive-behavioral neurological impairments.
To achieve this, we work closely with the hospital’s departments of neurology, neurophysiology, internal medicine, ENT, ophthalmology, and maternity, as well as the CRMR for psychiatric manifestations at Hôpital Sainte-Anne.
Our Center’s research activities, conducted in partnership with the Paris Brain Institute (ICM), focus on three main areas:
The Center is also highly involved in training and teaching on inherited metabolic disorders, both nationally and internationally.
The CRMR team is multidisciplinary, providing comprehensive support for patients with leucodystrophies, and comprises physicians, a neuropsychologist, a psychologist, engineers, a dietitian, a genetic counsellor, administrative staff, and a social worker.
The research activities of our Center, in collaboration with the Paris Brain Institute (ICM), focus on three main areas :
Our Center is also highly involved in education and training on inherited metabolic disorders at both national and international levels.
Studies involving treatments
Disease monitoring and progression
Collection of blood samples from affected patients for analysis
This publication, arising from the July 2024 symposium on the Connection Between Physics and Metabolism in Brain Functions, examines the role of physical processes in brain metabolism. It highlights how these processes, alongside molecular mechanisms, govern cellular homeostasis and contribute to phenotypic variability in genetic disorders. By bringing together expertise across disciplines, the initiative advances […]
This paper summarizes the expansion of newborn screening for inherited metabolic diseases, highlighting that its benefits vary across conditions. It emphasizes the need for a better understanding of the full disease spectrum and long-term outcomes, and advocates for involving adult metabolic specialists to refine screening programs so they target patients who truly benefit while minimizing […]
This paper summarizes the growing number of adults diagnosed and managed with inherited metabolic diseases, highlighting a substantial increase in patient numbers over the past decade. It shows that many patients are diagnosed in adulthood, and that the diversity of conditions is broad. These findings underscore the expanding need for specialized adult metabolic care and […]
This paper highlights that inherited metabolic diseases are no longer limited to pediatrics, as about half of patients are now adults. It emphasizes that pediatricians can learn from adult medicine, particularly regarding long-term outcomes, milder adult forms of disease, and adult-onset conditions that broaden understanding of metabolism. Overall, it stresses the importance of close collaboration […]
Our therapeutic education program for patients (in French, Education Thérapeutique du Patient, ETP) called “Mon cétogène au quotidien,” is directed to patients, parents of minors, and caregivers. It consists of four workshops that will allow attendees to own and better manage their diet.
Find our upcoming events, multidisciplinary consultation meetings and ketogenic workshops.
