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study newborns diseases rare

Study of rare diseases in newborns
Radio Sintonia:

The study of new rare diseases to newborns in the Canary Islands is incorporated.
The Ministry of Health, through the General Directorate of Assistance Programs, expands in four new diseases the portfolio of services of the Neonatal Screening Program of Metabolopathies of the Canary Islands, following the guidelines agreed within the framework of the Interterritorial Council of the National Health System. 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 smell urine disease (MSUD) began. In addition, in parallel, the incorporation of The 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 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, delay in motor, language and cognitive development, as well as auditory or visual dysfunction.


Determination of homocystinuria and the Disease of urine smell of maple syrup

Homocystinuria is a disease of alteration of the metabolism of methionine that induces the accumulation of homocysteine and its dimer, homocystin, and that entails adverse effects such as tendency to thrombosis, dislocation of the lens and skeletal and central nervous system alterations.

Meanwhile, maple syrup-smelling urine sickness in its most severe version can damage the brain during times of physical stress (such as infection, fever, or not consuming food 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 dozen diseases

The Neonatal Screening Program of Metabolopathies 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 two other pathologies. These are hypothyroidism, cystic fibrosis, phenylketonuria, deficiency of A Cil-Coenzyme A Medium Chain Dehydrogenase (MCADD), deficiency of 3-Hydroxyl-Acyl-Coenzyme A Long Chain Dehydrogenase (LCHAD), Glutaric Acidemia Type I, Hemoglobinopathy: Sickle cell anemia and biotinidase deficiency (BTD), to which are now added the aforementioned Maple syrup smell urine disease and homocystinuria.

These 10 pathologies will be joined in a few months by 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, a reference centre 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 formed by medical personnel with extensive knowledge and experience in this matter, as well as nursing and qualified technical and administrative personnel to develop these procedures.

The HUC laboratory has the particularity of having to work under the demands of well-established times, since it is of vital importance to establish an early treatment that allows to avoid the development of diseases of serious consequences for newborns. In the vast majority of newborns, these symptoms are late, and when 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.
At the moment, around 14,000 determinations of these diseases are carried out every year.
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