Clinical Emergency Hospital for Children, Cluj-Napoca

Cluj-Napoca, ROMANIA

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

Our mission is to provide an accurate and advanced healthcare for people with lysosomal diseases and other inherited metabolic disorders (as fatty acid beta-oxidation disorders), to invest in research and to disseminate and share best practice.

The activity of our centre is carried out in Clinical Genetics Department of Emergency Clinical Hospital for Children, Cluj-Napoca. We also represent the Regional Centre for Medical Genetics in Cluj, the National Reference Centre for Inherited Metabolic Disorders – Lysosomal Diseases and for Rare Endocrine Disorders – Congenital Adrenal Hyperplasia.

Patients with lysosomal diseases are diagnosed and monitored in our centre since 1997, when the specific molecular diagnosis for Gaucher disease was introdiced for the first time in Romania. Since then, most of Romanian patients with lysosomal disorders were investigated here, more than 200 patients were diagnosed, and more than 120 patients are undergoing specific treatment. We follow up all the patients with mucopolysaccharidosis (MPS) type I (Hurler disease), MPS type II (Hunter disease), alpha mannosidosis and Gaucher disease (all patients from 1997 to 2019, only pediatric patients afterwards), monitoring them twice a year.


The diagnosis is established using enzyme activity measurement and genetic testing. The diagnosis and research in lysosomal disorders are possible thanks to our main collaborators and to the Medical Genetic Laboratory, affiliated to our service. Imagistic laboratory in our hospital supports us in establishing a precise phenotypic diagnosis, by ultrasounds, MRI or CT scans, provided by specialists with a developed expertise in the field of lysosomal disorders. The partnership with “Iuliu Hațieganu” University of Medicine and Pharmacy of Cluj-Napoca is especially valuable by research possibilities, as high throughput sequencing and metabolomic research.

In Gaucher disease, we assure substitutive specific enzymatic treatment with Imiglucerase since 2003; patients with MPS type I and type II benefit of substitutive specific enzyme treatment with Laronidase (since 2005) and Idursulfase (since 2011), respectively. The patients with alpha-mannosidosis are also diagnosed and treated in our service with substitutive specific enzyme (since 2020). In Pompe disease and Fabry disease we offered medical advice regarding diagnosis and therapy. The treatment for all these disorders is supported by the National Health Insurance House (National Program for Rare Diseases).

We participated in regional board of examination for speciality and senior physicians and national contest of residency. We elaborated national clinical practice guidelines (as for Gaucher Disease, MPS type I and II, Tyrosinemia and Pompe disease).

Our contribution includes:

    • the epidemiological data collection for the patients with lysosomal storage diseases in a concrete and representative way
    • the collaboration with international registries (for Gaucher disease, MPS type I, MPS type II)
    • a prompt and accurate diagnosis (specific and molecular diagnosis)
    • a multidisciplinary approach to the patient with specific treatment of these diseases and genetic counselling
    • the training of medical staff and other specialists in order to be able to recognize an inherited metabolic disorder and to ensure adequate care of patients with these disorders
    • the development of clinical practice and treatment guidelines
    • research in the field of lysosomal storage diseases.

Camelia Alkhzouz

Head of Medical Genetics Department of Emergency Clinical Hospital for Children, Head of Expertise Center for Rare Metabolic Diseases (Lysosomal diseases), Associate Professor at the “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca.

Simona Bucerzan

Assistant Professor at “Iuliu Hațieganu” University of Medicine and Pharmacy, Cluj-Napoca and senior doctor in Pediatrics and Medical Genetics at the Medical Genetics Department of Emergency Clinical Hospital for Children.

Diana Miclea

Assistant Professor at “Iuliu Hațieganu” University of Medicine and Pharmacy, Cluj-Napoca; Senior Doctor in Medical Genetics and specialist in Pediatrics and Endocrinology