I encounter Luso Ibérico of the defects inborn of glycosylation.
Meeting Luso-Ibérico of the defects inborn of the glycosylation i.
the diagnosis early is key to the proper handling of patients with CDG syndrome.
Barcelona, October 2011.- experts and relatives of patients with syndrome CDG, set of hereditary diseases that affect the processes of glycosylation of molecules, are demanding more widely been knowledge of this disease, both to promote early diagnosis and therefore better management of the patient, and to enhance the research of new diagnostic and therapeutic methods.
It was held in Barcelona the I meeting Luso-Ibérico of the defects inborn of glycosylation, organized by the Associaçao Portuguesa CDG (APCDG) and the Spanish Association syndrome CDG (AESCDG), with the collaboration of Hospital San Joan de Déu in Barcelona, Hospital ClÃnic de BarcelonaUniversidad Autónoma de Madrid, University of Leuven, CDG Argentina, Ministério da Saúde Portugal, Red Cross and Ciberer. This workshop brings together leading national and international experts in this disease.
importance of early diagnosis
CDG syndrome patients have great clinical variability which hinders their diagnosis. This diagnostic complexity leads in many cases to confuse this disease with others with a different cause such as cerebral palsy. Early diagnosis is essential to advise families and improve the quality of life of the children concerned from the outset.
A diagnosis early will allow better management of the patient while avoiding unnecessary complementary studies and explorations. Because they are genetic diseases, there is a high risk of transmission to a same couple’s future children. In those CDG in which known genetic basis is possible to perform prenatal diagnosis and genetic counseling in future pregnancy, in order to limit the risk of recurrence.
CDG syndrome
The inborn glycosylation defects (Congenital Defects of Clycosylation – CDG, according to its name in English) are inherited disorders of metabolism of glycoproteins and other glycoconjugates, molecules composed of a protein attached to one or several chains of sugars called glycans. CDG syndrome is characterized by defects in the synthesis of the Glycans that will affect many proteins and other molecules at the same time and that can cause a complex multisystem disease, affecting different organs and systems of the human body.
Therefore people with CDG syndrome due to a congenital defect of glycosylation, it has vital involvement diverse, depending on the defect and the severity of same origin. So the clinical picture and the evolution of the disease varies much from a patient to another.
diagnostic
above all patient to present a combination of neurological symptoms (ataxia, psychomotor retardation, epilepsy, etc.), gastrointestinal, cardiac, renal, dermatological, clotting problems, eye, bone and growth should think in a CDG syndrome. The majority of patients are diagnosed during infancy and first decade of life, but there are also cases of delayed diagnosis made during adulthood.
The first case was described by prof. Jaak Jaeken Department of Paediatrics of the University of Leuven (Belgium) in 1980. Since then have been described around 50 defects of glycosylation different, affecting different metabolic processes related to the glycosylation.
The diagnosis of the CDG is performed through biochemical analysis (isoelectric focusing of transferrin and other glycoproteins technique), enzyme assays in different cells (white blood cells and fibroblasts) and molecular analysis of the genes implicated in this disease. These studies are conducted in centres specialised in the diagnosis of inborn errors of metabolism.
Currently, more than 900 patients worldwide have been diagnosed. In Spain, more than 60 patients with the N-glycosylation defects have been diagnosed since 1997. In this sense, it has made progress because there is a national network for diagnosis and research of these syndromes that operates under the umbrella of the Center for research in biomedicine in network on rare diseases (CIBERER).
Despite the fact that it is a rare disease with an incidence of probably less than 1 for every 5,000 newborns, the knowledge of this disease by specialists in paediatrics will improve early diagnosis, treatment, and finally the quality of life of children and their families.
Treatment
To date there is only effective treatment for a couple of rare defects of this syndrome (CDG Ib and CDG IIC). However, there are rehabilitation treatment (physiotherapy, speech therapy, systems of occupational therapy, augmentative communication, etc.) to improve neurological problems of these patients. Also, apply support measures or symptomatic treatments that can improve the quality of life and increase the survival of patients.
Portuguese Associaçao CDG (APCDG) and Association Spanish syndrome CDG (AESCDG)
The Associaçao Portuguesa CDG (APCDG) and CDG syndrome Spanish Association (AESCDG) are associations non-profit whose aim is to provide adequate information on the CDG syndrome diagnosed persons.
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