Health adds four new rare diseases to newborn screening in the Canary Islands

The Ministry of Health has expanded the service portfolio of the Neonatal Screening Program for Metabolopathies of the Canary Islands by four new diseases, adding to the tests carried out on the newborn, through a blood test, the analysis for the identification of the homocystinuria and Maple Syrup Urine Disease (MSUD) and tests for Tyrosinemia and Severe Combined Immunodeficiency (SCID).

Health adds four new rare diseases to newborn screening in the Canary Islands

The Ministry of Health has expanded the service portfolio of the Neonatal Screening Program for Metabolopathies of the Canary Islands by four new diseases, adding to the tests carried out on the newborn, through a blood test, the analysis for the identification of the homocystinuria and Maple Syrup Urine Disease (MSUD) and tests for Tyrosinemia and Severe Combined Immunodeficiency (SCID).

The objective is that serious diseases can be detected pre-symptomatically in order to treat them early and minimize neurological, sensory, organic and psychic disability, with 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 . This is the case of 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 auditory 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.

These diseases are added to the ten diseases of the Neonatal Metabolopathies Screening Program of the Canary Islands, which is currently studying, after the incorporation of the two new determinations, a total of 10 pathologies in the neonatal stage, which will be added in the second semester this year two more pathologies.

These include hypothyroidism, cystic fibrosis, phenylketonuria, Medium Chain A Cyl-Coenzyme A Dehydrogenase (MCADD) deficiency, Long Chain 3-Hydroxyl-Acyl-Coenzyme A Dehydrogenase (LCHAD) deficiency, Glutaric Acidemia Type I, Hemoglobinopathy : Sickle cell anemia and biotinidase deficiency (BTD), to which are now added the aforementioned homocystinuria and maple syrup urine disease.

In a few months, the Tyrosinemia and Severe Combined Immunodeficiency (SCID) tests will be added to the 10 pathologies that are studied in the screening.

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.

For its part, severe combined immunodeficiency causes growth retardation, chronic diarrhea, frequent and often severe respiratory infections, and fungal infections, among other manifestations.

Yorum yapabilmek için üye girişi yapmanız gerekmektedir.

Üye değilseniz hemen üye olun veya giriş yapın.

NEXT NEWS