Up to 40 inborn errors could detected. There is only one Centre in the whole of the country for these diseases with a prevelance of one every 400 newborns
Nekane Lauzirika – DEIA (01-03-2008 )
Experts claim specific tests, newborn screening, to diagnose early rare metabolic diseases (ERM). These pathologies, affecting one for every 400 newborns, are caused by a genetic disorder (when the same genetic mutation occurs in both parents) altering the function of different metabolic pathways. Although unfrequent, there are a great number of them, making it even more difficult to diagnose. Currently, the State only has a centre for neonatal diagnosis of ERMs, located in Santiago de Compostela.
These aspects were addressed in the framework of the IV meeting of inborn metabolic disorsders held in Bilbao, with the assistance of specialists from across the State. In the opinion of the Coordinator of the meeting sponsored by Mead Johnson, Professor Pablo Sanjurjo from the Metabolic Diseases Unit of the Bilbao Cruces Hospital , the main problem that exists in relation to these diseases is if the diagnosis does not happen at the time of birth. “With the introduction of newborn screening we could detect up to 30 or 40 diseases of this kind at the time of birth.” “What makes possible that the child will receive a correct treatment right from the first weeks of life and avoiding the devlopment of other complications”.
Early diagnosis is currently the most effective weapon against these diseases, which in the majority of cases are fatal or produce many sequels if not treated properly. “Everything depends on the pediatrician having an adequate training and sensitivity to suspect that it may be a metabolic disease”. It is often necessary to consult with a specialist in such diseases, who will make the definitive diagnosis and indicate the treatment. There “is the added difficulty that the methodology used to confirm the diagnosis is complex, so there is a high rate of under-diagnosis.”
If the child has a metabolic acidosis (alteration of the acid-base balance of the body, resulting in an excessive acidity in the blood), a respiratory or neurological problem that does not respond to a known cause, immediately he has to be refered to the specialist, who, through specific laboratory tests will confirm the diagnosis. “Many times”, says this expert, “the child comes in a very advanced stage of the disease, with a serious prognosis, which could have been avoided with the newborn screening”.
Both experts and those affected have been asking for a long time the need of clinical centres of reference. They are pathologies that require a multidisciplinary approach since they affect different organs, but the detection and management of these children should be done by a team specialized in these pathologies.
While in the State reference centres for 25 years thare has been two programs of newborn screening for congenital hypothyroidism (decreased production of thyroid hormone in a newborn) and phenylketonuria (the body can not metabolize the amino acid phenylalanine in the liver), yet remains another 20 or 30 rare inborn disorders for which it does not apply. “This is precisely what we are asking for all these diseases.” “We hope that now it is fashionable to talk about rare diseases, perhaps is the time to vindicate this need to the administrations”..
It is common that parents with children with ERM feel helpless in this situation, either because they do not have specialists on these diseases in their place of residence or even because of the strict dietary control these children follow.
According to Professor Pablo Sanjurjo, it is fundamental that the families will have the advice and support of psychologists and experts in nutrition and dietetics. “Hence the importance of reference centres”.
