National Institute of Children´s Diseases

Bratislava, SLOVAKIA

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

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.


The Center for inherited metabolic disorders has a wide experience in the treatment of lysosomal disorders, ketogenic diet, and diet treatment especially in glycogenosis Ia. We also have excellent experiences in managing Hyperammonaemia in urea-cycle disorders and differential diagnostic of Methylmalonic acidaemia in cooperation with Diabgene, Institute of experimental endocrinology (Slovak Academy of Sciences Bratislava), and the Metabolic Unit of Kinder Hospital in Zurich (Prof. Mathias Baumgartner) for enzyme activity analysis.

Patients with acute metabolic decompensation or patients who need acute care are admitted to Intensive Care Unit and treated in accordance with guidelines for emergency identified by the metabolic team. Enzyme Replacement Therapy is usually administered in outpatient services. Patients requiring specific medical or surgical treatments for complications (e.g. gastrostomy, tracheostomy, not invasive ventilation etc) receive these treatments following guidelines identified in accordance with the metabolic team. Transplant Unit guarantees Hematopoietic Stem Cell Transplant to eligible patients. Outpatient Rehabilitation Services are available for patients with metabolic disease needing special rehabilitation which is not available in territorial rehabilitation services. A team for home palliative care assistance is forming for oncologic patients and it will be available also for metabolic disorders and other rare diseases (e.g. neurodegenerative diseases, neuromuscular diseases). The palliative care team follows metabolic patients in accordance with guidelines specifically identified together with the metabolic team.

Anna Hlavatá

Head of the Center for inherited metabolic disorders (CIMD), National Institute of Children's Diseases and Comenius University, Faculty of Medicine, Bratislava, Slovakia

Simona Tárnoková

Department of Laboratory medicine, Center for inherited metabolic disorders (CIMD), National Institute of Children's Diseases and Comenius University, Faculty of Medicine, Bratislava, Slovakia