Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network
Hôpital Pitié-Salpétrière
Paris, FRANCE
The Reference Center for Neurometabolic Diseases was founded in 2017. Nested in La Pitié Salpêtrière Hospital, in Paris, the center specializes in hereditary metabolic diseases affecting the nervous system and/or causing psychiatric changes in adults like mitochondrial diseases, aminoacidopathies (such as phenylketonuria, which is the most frequent), urea cycle disorder, homocysteine remethylation defects, organic aciduria, fatty acid oxidation defects, genetically encoded vitamin deficits (vitamin E, vitamins B), GLUT1 deficiency, purine and pyrimidine deficits, intracerebral creatinine deficit, peroxisomal disorders, complex lipids synthesis and remodeling deficits, congenital glycosylation defects, neurodegeneration with brain iron accumulation (NBIA) diseases, as well as hypomyelinating and demyelinating leukodystrophies such as X-linked adrenoleukodystrophy and cerebrotendinous xanthomatosis.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
La Pitié Salpêtrière hospital is a public teaching hospital affiliated to the Assitance Publique- Hôpitaux de Paris (AP-HP) group. La Pitié-Salpêtrière has 77 medical services organized in 10 poles, and distributed in 90 buildings on a 33 hectares campus.
The Reference Center for Neurometabolic Diseases functions as an out-patient care facility. The Center closely works with the Neurology, Hematology, Internal Medicine and Emergency departments when in-patient care is required.
Some interventions that the Center proposes are:
- Genetic counselling
- Molecular and clinical diagnosis
- Clinical follow-up
- Patient tailored diet when needed
- Emergency treatment for acute metabolic crises.
The Center has also developed dedicated therapies for:
- GLUT1 deficiency
- Fatty acid oxidation defects
- Cerebrotendinous xanthomatosis
- X-linked adrenoleukodystrophy
- Bone marrow transplantation for leukodystrophies (in collaboration with Prof. Nguyen).
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