National Institute of Children´s Diseases

The Center for inherited metabolic disorders (CIMD) began to form in 1993 and is included in the national list of Centers of Expertise for rare diseases in Slovakia.

CIMD is part of the National Institute of Children’s Diseases in Bratislava, Slovakia, where all specialisations or special diagnostics are directly available both for paediatric (Paediatricians, Clinical biochemists, Clinical geneticists, Paediatrician neurologists, Pharmacists, Social nurses, Speech therapists Audiologists, Ophthalmologists, Radiologists, Surgeons, Intensivists, Anaesthesiologists, Cardiologists in cooperation with the National Institute for Cardiovascular diseases – children’s Cardio Centre) and adult patients (Internists, Neurologists and Gynaecologists from the University hospital in Bratislava). Since there doesn´t exist adult centers for rare metabolic disorders, the patients stay in care of the National Institute of Children´s diseases also in adulthood.

CIMD is providing diagnostics, complex treatments and the whole range of medical care, including outpatient and inpatient care, hospitalization units and operation theatre (in cooperation with specialists from University hospital in Bratislava, for adult patients). The examination of the patients in our center includes biochemical analysis and genetic testing, thus providing a diagnostic service directly in CIMD. In case of specific analysis or services we cooperate with different facilities both in Slovakia and abroad.

Nowadays CIMD is the largest provider of diagnostics and clinical management of IMD patients in Slovakia and supplies:

• selective screening of IMDs for patients with diverse clinical symptoms throughout the country
• lifelong biochemical monitoring of paediatric and adult treated patients with confirmed IMDs throughout Slovakia
• follow-up investigations of children positively identified by expanded newborn screening for the regions of western and eastern Slovakia since 2013 (positive cases are afterwards followed and set on treatment in CIMD, in cooperation with the National screening centre)
• cooperation and giving second opinion to two University children’s hospitals and other hospitals in Slovakia
• close cooperation with foreign workplaces, especially from the Czech Republic, in solving diagnostic and clinical issues
• genetic testing and biochemical analysis (except for Diagnostics enzyme activity tests and enzyme activity assays which are performed in cooperation with accredited laboratories in Slovakia and abroad)

The CIMD participates in various research projects with important scientific Slovak institutions.