Centro Hospitalar do Porto, Porto, Portugal


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

The CHP is a central university hospital due to its association with Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto (ICBAS,UP). CHP aims excellence in all its activities from a global and integrated perspective of health.
Its mission is to provide humanized, competitive and reference health care, promoting interaction with other partners of the system, enhancing pre- and post-graduate education, vocational training, stimulating and encouraging scientific research and development in the health field.

CHP Metabolic Disorders Unit has an accumulated experience of over 20 years and provides specialized care in the area Inborn Errors of Metabolism (IEM), from the neonatal period to adulthood. Has medical staff with recognized activity, number of patients and conditions that allows experience in large number of disorders, laboratory support and health professionals experienced in the diagnosis, treatment and follow-up of children, adolescents and adults with metabolic disease, as well as their families.
The essential pillars of the concerted action are group consultations, dialogue between the members of that team and other health professionals within the same institution, or external institutions whenever necessary. The unit activity has been characterized by stability, continuous improvement of the results, accessibility and an effective response.

Within this Unit, Centro de Genética Médica Jacinto de Magalhães (CGMJM) is an institution with an experience of about forty years that is reference laboratory for most groups of IEM, such as lysosomal storage disorders (LSD), peroxisomal disorders or congenital disorders of glycosylation.

Within CHP Metabolic Disorders Unit, besides all the clinical and diagnostic activity, a special emphasis is given both on training activities of pre and post-graduation courses as well as scientific activity within the field of inherited metabolic disorders.

The team members invest on continuous education programs to guarantee and reinforce their scientific expertise, which is reflects in the quality of their practice, keeping updated with scientific knowledge, particularly in terms of new molecular genetics methods, new diagnostic technologies and therapeutic approaches.


Prevention: CHP action covers the three pilars of Primary, Secondary and Tertiary Prevention. The Primary prevention focus its action on preventing the birth of affected children, secondary prevention through prevention of clinical manifestations in affected individuals by appropriate intervention and also provisioning adequate care and rehabilitation in affected individuals (Tertiary Prevention).
Acute care: Whenever patients decompensate or have urgent need of assessment, support is guaranteed every 24 hours by a member of the pediatric and/or Internal Medicine team. In case of clinical instability situations requiring research, treatment and close monitoring, patients are admitted in the hospital pediatric or adult Intermediate or intensive care unit. The information concerning procedures for emergency/urgent situations is written in a protocol and patients are provided with a report with personalized information.
Ambulatory services: The appointments have a multidisciplinary schedule in order to be observed in several specialties in the same day, and preform metabolic control whenever necessary. In the Day-Hospital patients are treated according to each disorder metabolic control requirements, submitted to evaluation of target organ involvement, functional tests and administered enzyme replacement therapy.
Diagnostic services: The Biochemical Genetics Unit is a highly equipped laboratory fully dedicated to the diagnostic of IEM. Its action involves quantification of metabolites, cell culture, enzymatic studies and molecular studies.
Interventional therapeutic services: Specific dietary and nutritional treatment of patients with IEM is assured by a team of nutritionists working in close contact with the clinician. Pharmacy department guarantees all orphan drugs only available for hospital use, which are included in the emergency and/or maintenance treatment.
The CHP has the possibility to assure all dialysis techniques both in pediatric and adult care, liver and renal transplant teams. The transplantation of hematopoietic precursors is also performed.
Ventilatory suport in available in ambulatory assistance.
Rehabilitation services: These services include physical therapy, physiotherapy, occupational therapy and speech therapy, as well as psychology and nursing support with a special training on the pathologies.
Social care services: The Unit has social care services that ensure support for patients from pediatric to adult age.
Palliative care services: CHP is integrated in the national continuing palliative care network.

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    Esmeralda Martins

    Centro Hospitalar do Porto, Porto, PortugalCentro Hospitalar do Porto, Porto, Portugal

    Dulce Quelhas

    Centro Hospitalar do Porto, Porto, PortugalCentro Hospitalar do Porto, Porto, Portugal