University Medical Centre Ljubljana

Ljubljana, SLOVENIA


University Children’s Hospital Ljubljana (UCHL) as a part of University Medical Centre Ljubljana (UMCL) is the central national paediatric hospital with a tertiary and quaternary health care. UCHL ( represents the national educational base for the paediatrics in Slovenia and is one of the 17 care clinics/institutes in the UMCL with 2166 patient beds ( UMCL has a principal aim to provide quality care to patients from Slovenia in all health care areas for the paediatric and adult patients and it has obtained the international accreditations.

UCML’s 1212 physicians pursue a triple mission of health care, education and research. UCML is the only hospital in Slovenia providing specialized care for some diseases, including the rare diseases with particular interest in genetic inherited disorders like inborn errors of metabolism and primary immune deficiencies, which are managed at UCHL. A transition program to help the patients affected by rare diseases from paediatric to adulthood care is available.
Activities of the UMCL and UCHL include:

  • Health care services with the diagnostic and management facilities for inpatients,
  • Specialist services and other health care activities for outpatients
  • Education, research and experimental development in medicine and natural sciences,
  • Pharmacy services and wholesale trade in pharmaceutical products, including the orphan drugs,
  • The multidisciplinary expertise for the rare diseases, including genetic counselling,
  • The habilitation and rehabilitation of children, adolescents and adults with different developmental disorders, consequences of injuries or diseases on their locomotor and nervous systems with prevailing motor impairments,
  • Other activities needed to support the UMCL’s basic functions.

UCHL is a patient-centered HCP with the practice of caring for the patients in the ways that are meaningful and valuable to the individual patients and their families. UCHL encourage patients and the family/parents in decision-making, recognizing the importance of the care that is respectful of, and responsive to, individual patient preferences, needs and values. The information regarding access to clinical, social, physical and financial support are available. The inclusion of the psychologist and the social worker in the management of the patients is the part of the integrated medical care at UCHL.
National Contact Point for Rare Diseases is an additional activity of UCHL ( The contact point has a daily info telephone and e-mail access with the personal counselling to the patients, who have a diagnosis of a rare disease, including the inborn errors of metabolism.


✥ The therapy programmes for rehabilitation to maximally use the child’s remaining abilities, assist them in daily activities with necessary devices (wheelchairs, orthoses, prostheses, therapeutic bicycles, communication devices) and make all necessary adjustments for their inclusion into kindergarten or school.
✥ Enzyme replacement therapy for Gaucher, Fabry, Pompe, mucopolysaccharidoses (type II, VI), LAL deficiency (as a part of the trial).
✥ Substrate reduction therapy: Niemann Pick type C.
✥ Surgery for neurological involvement such as, carpal tunnel decompression, ENT surgery, lumbar spine decompression and stabilization, ventricular peritoneal shunts, liver and kidney biopsy, corneal transplantation, dental surgery.
✥ Concomitant and supportive treatments with the need for the multidisciplinary expertise in paediatric neurology, gastroenterology, pulmonology, ENT and other medical specialities

Key resources:

✥ Access to UMCL Unit for Special Laboratory Diagnostics for analyses of metabolites in blood/urine/cerebrospinal fluid, enzyme diagnostics and DNA analyses ( For an overview on this site for available tests, please click here.
✥ Access to UMCL Clinical Institute of Medical Genetics for genetic tests and molecular analyses in the field of inherited/hereditary genetic disorders, prenatal and preimplantation genetic diagnostics and cancer genetics.
✥ Access to Specialized Diagnostics: (neuro)radiology (CT, MRI/MRS, PET/CT), echocardiography, neurophysiology (EEG, EMG, VEP, SEP, BERA), sleep studies, ophthalmology, cardiology, gastroenterology, nephrology, urology, neurology, PED audiology, swallowing studies.
✥ Access to Clinical Units or day care facilities providing enzyme replacement therapy.
✥ Access to Paediatric Intensive Care Unit (for the specialized care after the surgery, the urgent dialysis)
✥ UMCL provides the national – wide neonatal metabolic screening in Slovenia

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    Mojca Zerjav Tansek

    University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana, Slovenia

    Urh Groselj

    University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Ljubljana, Slovenia