University hospital “Alexandrovska”in Sofia


Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

The Expert center for hereditary neurologic and metabolic disorders and the Bulgarian Neuromuscular Disorder Society (BGNMDS), based in University hospital “Alexandrovska” are known as the leading specialist center in Bulgaria for neuromuscular and metabolic diseases. The Expert center, based in the University hospital “Alexandrovska” has a big experience in the diagnosis, treatment and follow up of patients with metabolic disorders, such as Pompe disease, Gaucher disease, Fabry disease, Niemann Pick type B (NPB) and C (NPC), PDC deficiency, Mucopolysaccharidoses, Phenylketonuria and Wilson disease. This center is made up of multidisciplinary academic medical professionals (neurologists, child neurologists, cardiologists, pulmonologists, gastroenterologists, neuroradiologists, pathologists, geneticists, physiotherapists, neuropsychologists, physiotherapists and nurses), specialising in rare disorders. Members of the center and society have contributed to the identification of novel types of NMD among Roma. BGNMDS is also involved in international PHARE prevention and social projects addressing the Roma community in Bulgaria. The society is actively participating in TREAT-NMD network. BGNMDS have completed a NMD project funded by the Bulgarian Ministry of Education and Science and have been a collaborator in Care NMD project. The centre organizes the care, treatment and follow up of patients with neurometabolic disorders and courses/lectures in University Hospitals to medical specialists and has established a close collaboration with the Bulgarian alliance of people with rare disorders – a collaborating partner in this application. The expert center is actively involved in running the Bulgarian registries on NPC, NPB and Pompe disease. BGNMDS is actively involved in selective screening programmes for rare genetic disorders, such as TTR FAP, Pompe disease, Niemann Pick C disease, aiming early diagnosis and timely treatment.


The Commission for treatment of rare disorders is a unique structure, based in University hospital “Alexandrovska”. It encompasses a multidisciplinary team of specialists, who are members of the Expert center for hereditary neurologic and metabolic disorders as well. The main role of the commission is evaluation of patients with metabolic and genetic conditions with available treatment, such as TTR-FAP, Pompe disease, CMS, Niemann Pick type C disease, Gaucher disease, MPS 2, Wilson disease and providing them with treatment, which is fully reimbursed by the state.
An infusion center for rare metabolic disorders was established in 2012 in University hospital “Alexandrovska”.
The adherence to dietary requirements of patients with PKU is followed up by the experts from the center.
A qualified team of physiotherapists with expertise in rare disorders is offerring the patients adequate reahabilitation programmes, according to their condition.
A programme for respiratory care for patients with NMD, incl. Pompe disease has been initiated in 2014 in University hospital “Alexandrovska”. The necessity for invasive of noninvasive ventilation is assessed by pulmonologists and emergency specialists.
After cardiac evaluation subsequent treatment for cardiomyopathy, rhythm or conduction abnormalities is provided to patients.

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    Ivailo Tournev

    University hospital "Alexandrovska"in Sofia