The Ministry of Health of the Government of the Canary Islands will include four new diseases in the service portfolio of the Neonatal Metabolic Screening Program, that is, for newborns.
The Ministry of Health explains that it is carried out through a blood test to identify serious diseases presymptomatically in order to treat them early and minimize neurological, sensory, organic and psychic disability.
Thus, they detail that the determination of homocystinuria and maple syrup urine disease (MSUD) began a few days ago. In addition, in parallel, the incorporation of Tyrosinemia and Severe Combined Immunodeficiency (SCID) tests in the determination profile of the Neonatal Screening Program has been approved, procedures that will begin during the second semester 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 for the 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 Ministry of Health explains that the objective of neonatal screening is "the early diagnosis of some diseases that cause serious developmental sequelae, such as epilepsy, intellectual disability, delay in motor, language and cognitive development, as well as auditory or visual dysfunction".
Determination of homocystinuria and maple syrup urine disease
The Ministry of Health explains that homocystinuria is a disease of altered methionine metabolism that leads to the accumulation of homocysteine and its dimer, homocystine, and that entails adverse effects such as a tendency to thrombosis, lens dislocation, and skeletal and central nervous system alterations.
For its part, maple syrup urine disease, in its most severe version, can damage the brain during times of physical stress (such as infection, fever, or not eating for an extended period of time). Some types of this disease are mild or intermittent, but even in its mildest form, repetitive periods of physical stress can cause intellectual disability and a buildup of high levels of leucine.
Study of more than a dozen diseases
The Canary Islands Neonatal Metabolic Screening Program currently studies, after the incorporation of the two new determinations, a total of 10 pathologies in the neonatal stage, to which another two pathologies will be added in the second semester of this year. These are hypothyroidism, cystic fibrosis, phenylketonuria, Medium-Chain Acyl-Coenzyme A Dehydrogenase (MCADD) deficiency, Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) deficiency, Glutaric Acidemia Type I, Hemoglobinopathy: Sickle cell anemia and biotinidase deficiency (BTD), to which are now added the aforementioned Maple syrup urine disease and homocystinuria.
To these 10 pathologies will be added in a few months the tests for Tyrosinemia and Severe Combined Immunodeficiency (SCID).
Tyrosinemia includes alterations at the hepatic and renal level, in addition to delay in 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 tests performed on all newborns in the archipelago and has a human team made up of medical personnel with extensive knowledge and experience in this matter, as well as nursing and technical and administrative personnel qualified 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 avoid 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 utmost importance.
At the moment, around 14,000 determinations of these diseases are carried out each year.