Diseases treated and number of patients

Hereditary Metabolic Diseases:

• Diseases caused by intoxication
• Diseases due to energy depletion
• Diseases of complex molecules

Metabolic channels and diseases:

• Energy metabolism
• Amino-acids and protein metabolism
• Carbohydrate) metabolism
• Lysosomal metabolism
• Peroxysomal metabolism
• Sterol and lipoprotein metabolism
• Protein glycosylation
• Purine and pyrimidine metabolism http://www.filiere-g2m.fr/patient-public/les-pathologies/voies-metaboliques-et-pathologies/metabolisme-des-purines-et-pyrimidines/
• Neurotransmission
• Heme and metal metabolism

11.000 patients are being followed up to date in G2M. 

Goals:

• To improve the patient’s therapeutic pathway and overall management
• To study opportunities for extending neonatal screening 
• To lead expert groups with the governing authorities to make sure that the patients are financially covered  
• To encourage the creation and enlargement of the registers to collect data and the National Data Base on Rare Diseases  
• To reinforce the interaction between the players in basic, translational and clinical research 
• To encourage the coordination of health and the medico-social and educational aspects.  
• To undertake action in favour of training in the sector 
• To reinforce cooperation with other actions and European programmes 
•  To reinforce cooperation and reciprocal information with the Patient associations.  
• To describe any possible connections with other sectors of health on rare diseases and the knowledgeable societies.  

The players:

 Reference centres for Hereditary and Metabolic Diseases

• The HMD reference centre for the Ile de France – Pr Pascale DE LONLAY
• The HMD reference centre – Ile de France Region – Dr Manuel SCHIFF
• The HMD reference centre – Rhône-Alpes Region – Dr Nathalie GUFFON-FOUILHOUX
• The HMD reference centre – PACA region – Pr Brigitte CHABROL
• The HMD reference centre – Lorraine Region – Pr François FEILLET
• The HMD reference centre –  Nord Pas de Calais Region – Dr Dries DOBBELAERE
• The HMD reference centre for Lysosomal Diseases – Hôpital Beaujon – Dr Nadia BELMATOUG
• The HMD reference centre for liver disease – Hôpital Béclère – Pr Philippe LABRUNE
• The HMD reference centre for Porphyria – Pr Jean-Charles DEYBACH & Dr Laurent GOUYA
• The HMD reference centre for Fabry’s disease and hereditary diseases of the connective tissue affecting the skin and joints – Pr Dominique GERMAIN
• The HMD reference centre for  Wilson’s disease : Dr France WOIMANT
• The HMD reference centre for rare iron overload pathologies of genetic origin : Dr Edouard BARDOU JACQUET

Competence Centres for Hereditary Metabolic Diseases

• The Toulouse Competence centre - Dr Pierre BROUE
• The Tours Competence centre - Pr François LABARTHE
• The Brest Competence centre - Pr Loïc DE PARSCAU

National Network: