FEEMH and ACIMET call for the immediate expansion and equipping of neonatal screening in Spain

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Within rare diseases, hereditary metabolic diseases are one of the most numerous groups. Neonatal screening programmes prevent the serious consequences of these diseases. Currently, in 7 Autonomous Communities, these programs are insufficient, and far below those in the rest. Late detection cases may cause significant disabilities or even death.

The neonatal screening (more commonly known as the heel test) all newborns in Spain are systematically made for the early detection of congenital or innate errors of metabolism (MCT) prior to their clinical manifestation, thus avoiding the occurrence of physical and psychological damage (return in growth, permanent disabilities or even premature death of the child in the first weeks of life).

For this purpose, in the first days of life, a few drops of blood are collected from the heel of the newborn, and they are sent for analysis to a specialized laboratory in each of the Autonomous Communities. Families, as a general rule, receive the results in their homes. If any disease is detected, they are informed that treatment can be established. If this neonatal screening is not carried out, and according to the type of disease, cases may be caused by severe disabilities and, in more serious cases, death. Therefore, the non-realization of this screening can thus make the difference between a newborn being able to make a normal life or suffer sequelae for life. The main benefit of the neonatal screening programme is the prevention of disease-related disabilities. Neonatal screening is a benefit for the child, his family and society at large.

In Spain there is no consensus among the Autonomous Communities on diseases to include in the Precocious Detection Programme of Metabolopathies, which implies that the survival and quality of life of Spanish newborns depends on their place of birth. However, the Methylanic Acidemia, as well as other metabolopathies, are already detected in several Autonomous Communities, it has been possible to check their therapeutic benefits, so it would only be necessary to replicate the procedures already implemented in other regions, without the need for a feasibility study. To emphasize that such implantation would not have an extra economic cost, since the laboratories responsible for such testing already have the necessary technology.

Recently, ACIMET and FEEMH have recorded the detection of a new case of Methylmalonic Acidemia (prevalence 1 of 60,000 births) in Castile and Leon. After several hospital incomes, and because they were not included in the neonatal screening, their diagnosis has not been possible to apply the necessary treatment recommended by specialists. FEEMH and ACIMET consider that this situation should not be repeated again, and report that Methylmalonic Acidemia, as well as other metabolopathies, are not properly diagnosed in all Autonomous Communities. Specifically, there are seven where the expanded screening is not practiced: Asturias, Cantabria, Castilla y León, Comunidad Valenciana, Islas Baleares, Islas Canarias y País Vasco. Libros de Derecho Inmobiliario

The neonatal screening of Methylmalonic Acidemia, as well as other metabolopathies, have had very positive therapeutic effects and an improvement in their quality of life, in many of those affected. This has avoided the serious consequences described above. Similarly, and based on patients who were not detected in heel testing, it has also been proved that they have suffered damage at different levels and various levels of disability.

Article 43 of the Constitution “recognises the right to health protection” and states that “competes public authorities to organize and protect public health through preventive measures and the necessary services and services”. Article 15 also states that “Everyone has the right to life and to physical and moral integrity.” Unfortunately, the current situation of inequality of neonatal screening in some of the Autonomous Communities prevents the effective exercise of these constitutional rights and is a serious injury to many of the newborn babies and their families.

For all the above, We request the competent administrations of each Autonomous Community and those responsible for these competencies at the national level to work urgently for the inclusion of the Methylmalonic Acidemia in the neonatal screening, as well as all those metabolic diseases that are already being studied in other Autonomous Communities and in which sufficient evidence is already available to justify their inclusion by cost-effectiveness and relevance.. This decision and its times influence, directly and seriously, the next baby that can be born in these Autonomous Communities. As a society, a second can not be allowed to continue this unjustifiable and unjustifiable situation, from the scientific point of view, from the sanitary point of view, much less, from a moral point of view.

This request is supported by the following entities.

• FAMILY GA: Association of Mutual Support of Families and Affected by Type 1 Glutárica and Type 2.
• Asociación PKU y OTM de Andalucía.
• Aragonese Association of Fenilcetonuria and Other Metabolic Disorders.
• PKU and OTM Association of Asturias.
• Asociación Cántabra de Afectados por enfermedades Metablicos Innatas PKU y OTM.
• Metabolic Association of Castilla La Mancha.
• ASPKUCYL: Association of Castile and Leon.
• Associació Catalana de malalties metabóliques aquíditáries pku/atm. Catalonia.
• Euskadiko Pku Elkartea and OTM: Euskadi Association.
• PKU and OTM Extremadura Association.
• ASFEGA: Asociación Fenilcetonurica de Galicia.
• AVAPKU: PKU and OTM Association of the Valencian Community.
• ASFEMA: Asociación de Fenilcetonuricos y OTM de Madrid.
• Association of Children's Fathers with Jarabe de Arce and other Metabolopathies of the Region of Murcia.
• ANAPKU: Asociación de Navarra de PKU y OTM.
• Spanish association for the study of congenital errors of metabolism.
• Associazione Italiana Acidemia Methylmalonica with Omocistinuria cblC Onlus.
• Alpha Project Association.
• ALER: Lioness association of rare diseases.
• MoreVisible.

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FEEMH and ACIMET call for the immediate expansion and equipping of neonatal screening in Spain

Within rare diseases, hereditary metabolic diseases are one of the most numerous groups. Neonatal screening programmes prevent the serious consequences of thes

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2023-04-11

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