Division for medical genetics and metabolic diseases (Referral Center for Medical Genetics and Metabolic Diseases in Children of the Ministry of Health, Republic of Croatia), Department of Pediatrics, University Hospital Center Zagreb

Zagreb, CROATIA

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

Divison for Medical Genetics and Metabolic Diseases (MD) is the Croatian national reference center for delivering medical care for pediatric patients with inherited metabolic diseases. It is the only center in the country that systematically deals with pediatric patients with metabolic diseases and covers the area of about 4.3 million people.
We deliver highly specialised medical care including laboratory diagnostics of rare metabolic diseases (amino acids, organic acids, carnitine, acylcarnitine profiling, mucopolysaccharides, oligosaccharides, chitotriosidase, several enzyme assays for lysosomal storage disorders in fibroblasts, blood cells and dried blood spots, prenatal diagnostics, etc.) and other highly specialised diagnostic procedures (MRI and spectroscopy, muscle biopsy, skin biopsy, EEG, EMNG…) as well as higly specialised therapeutic procedures that are delivered either through patient hospitalisations or daily hospital according to clinical guidelines for patients with inherited MD. We provide genetic counselling for rare metabolic disease and, in collaboration, prenatal diagnostics. Our Center has a Pediatric Intensive Care Unit with staff educated in intensive treatment of pediatric metabolic patients from newborn period.
Highly specialised patient ambulatory monitoring through policlinic work enables high quality outpatient managment and surveillance.
Our team has experience with managing cross border patients (e.g. from Bosnia and Herzegovina, Romania, Slovenia).
Our team has experience in networking (projects E-IMD, E-HOD, Euroglycanet, Innermed, European Galactosemia Network), research (we first described S-adenosylhomocysteine hydrolase deficiency) and clinical trials (lysosomal acid lipase deficiency).
Members of our team deliver university, post-graduate and specialised level of education and training in the field of pediatrics and inherited metabolic diseases and in fundamentals of medical skills.
With mentioned experience in research and managing patients with inherited metabolic diseases, we can contribute to care for patients with inherited MD, as well as to research and education.

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

– Newborn screening
– Acute and intensive care for pediatric patients with inherited metabolic diseases (IMD), including different modes of vital functions replacement (dialysis, ventilation, ECMO, etc.)
– Outpatient service for pediatric patients with IMD four times a week
– Regular consultations to adult medicine specialists (internists and neurologists) for adult patients suspected to suffer from IMD
Diagnostic service for patients with IMD:
– Special laboratory diagnostics of patients with IMD (amino acids, organic acids, total homocysteine, carnitine, acylcarnitine profiling, mucopolysaccharides, oligosaccharides, chitotriosidase, biotinidase, lactate, pyruvate, free fatty acids, several enzyme assays for lysosomal storage disorders in fibroblasts, blood cells and dried blood spots, prenatal diagnostics)
– EEG and EMNG
– MRI and spectroscopy
– Muscle, liver, skin biopsy (light and electron microscopy), bone marrow aspiration
– Radiographic diagnostics and CT
– Radionuclide imaging (PET CT)
– Molecular diagnostics in cooperation with other international centers
– Highly specialized multidisciplinary therapeutic approach to patients with IMD (including specific pharmacotherapy, enzyme replacement therapy, dietary counseling delivered by dietitians specialized in IMD) with genetic counseling, surgical and orthopedic care
– Psychological and social care for patients (psychologists and social workers giving care for patients in Department of pediatrics)

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    IVO BARIĆ

    University Hospital Center Zagreb

    Danijela Petković Ramadža

    University Hospital Center Zagreb, Croatia