SANTA CRUZ DE TENERIFE, June 8. (EUROPA PRESS) –
The Ministry of Health of the Government of the Canary Islands, through the General Directorate of Assistance Programs, has expanded the service portfolio of the Neonatal Screening Program for Metabolopathies of the Canary Islands by four new diseases, following the guidelines agreed within the framework of the Interterritorial Council of the Canary Islands. National system of health.
These are the tests that are performed on the newborn, through a blood test, to presymptomatically identify serious diseases in order to treat them early and minimize neurological, sensory, organic and psychic disability.
Thus, a few days ago the determination of homocystinuria and Maple Syrup Urine Disease (MSUD) began. In addition, at the same time, the incorporation of the tests for Tyrosinemia and Severe Combined Immunodeficiency (SCID) in the determination profile of the Neonatal Screening Program has been approved, procedures that will begin during the second half of this year.
These latest additions, together with the expansion of the determination of Biotinidase and the genetic screening of cystic fibrosis, launched in September 2021, represent an important advance in the diagnosis of diseases by neonatal screening in the Canary Islands.
Screening during the neonatal period includes certain processes of pre-symptomatic detection of diseases or disorders that, without apparent symptoms, can cause serious physical, mental or developmental problems, and in which early diagnosis and treatment significantly improve their prognosis .
The objective of neonatal screening is the early diagnosis of some diseases that cause serious developmental sequelae, such as epilepsy, intellectual disability, delayed motor, language and cognitive development, as well as hearing or visual dysfunction.
Homocystinuria is a disorder of methionine metabolism that induces the accumulation of homocysteine and its dimer, homocystine, and which leads to adverse effects such as a tendency to thrombosis, lens dislocation, and skeletal and central nervous system disorders.
For its part, the most severe maple syrup urine disease can damage the brain during times of physical stress (such as infection, fever or not eating for a long time). Some types of this disease are mild or intermittent, but even in its mildest form, repetitive periods of physical stress can lead to intellectual disability and a buildup of high levels of leucine.
STUDY OF MORE THAN A TEN DISEASES
The Neonatal Metabolopathies Screening Program of the Canary Islands is currently studying, after the incorporation of the two new determinations, a total of 10 pathologies in the neonatal stage, which will be joined in the second half of this year by another two pathologies. These are hypothyroidism, cystic fibrosis, phenylketonuria, Medium Chain A Cyl-Coenzyme A Dehydrogenase deficiency (MCADD), Long Chain 3-Hydroxyl-Acyl-Coenzyme A Dehydrogenase deficiency (LCHAD), Glutaric Acidemia Type I, Hemoglobinopathy: Sickle cell anemia and biotinidase deficiency (BTD), to which are now added the already mentioned Maple syrup urine disease and homocystinuria.
These ten pathologies will be joined in a few months by the Tyrosinemia and Severe Combined Immunodeficiency (SCID) tests. Tyrosinemia includes alterations in the liver and kidneys, in addition to delayed mental development due to the accumulation of this amino acid if early measures are not taken.
Severe combined immunodeficiency causes growth retardation, chronic diarrhea, frequent and often severe respiratory infections, and fungal infections, among other manifestations.
THE HUC, REFERENCE CENTER FOR THE CANARY ISLANDS
The HUC laboratory is the reference center for the analysis of the tests carried out on all newborns in the Archipelago and has a human team made up of medical staff with extensive knowledge and experience in this matter, as well as nursing and technical staff and qualified administrative staff to develop these procedures.
The HUC laboratory has the particularity of having to work under the demands of well-established times, since the establishment of early treatment is of vital importance to prevent the development of diseases with serious consequences for newborns. In the vast majority of newborns, these symptoms are late, and when they are observed they have already caused irreparable damage, almost always neurological, which causes serious developmental sequelae. That is why early diagnosis and treatment is of the utmost importance.
Currently, around 14,000 determinations of these diseases are made each year.
