Will the new disease be screened at birth soon? The High Authority for Health (HAS) this Tuesday recommended that newborn screening be extended to a rare disease affecting metabolism, VLCAD deficiency. If this recommendation is followed by the authorities, the disease may include pathologies detected in newborns in their first days of life.
Very long chain fatty acid dehydrogenase deficiency (for VLCAD Very long chain acyl-CoA dehydrogenase
) is a disease of fatty acid oxidation, characterized by a deficiency of enzymes required for the breakdown of lipids. “Symptoms are varied and the disease can progress very quickly, leading to death”Alerts the HAS. “Screening at birth will help to reduce diagnostic drift and delays in the implementation of treatments that aim to prevent episodes of decomposition (…) and that seem to improve the prognosis of severe forms.”However, there is no cure for this disease. “No treatment can yet definitively eliminate defects”It is explained on the Belgian Neonatal Screening website, while VLCAD deficiency is one of the diseases diagnosed at birth in Belgium. “Strictly avoiding fasting is the primary objective. For long-term treatment, the child should eat regularly, not exert themselves strenuously, and have a diet rich in carbohydrates. Glucose to restore metabolic balance.”
So far, in France, 13 diseases are detected by biological tests carried out during the days after birth, from a drop of blood taken from the newborn’s heel and collected on blotting paper. Neonatal screening aims to detect certain rare but serious diseases, such as cystic fibrosis or congenital hypothyroidism, most of which are of genetic origin. Objective: treatment before the first signs appear, to avoid or limit the effects on children’s health.
Also read
Contamination by E.coli bacteria: What foods should children avoid?
From the beginning of 2023, following the recommendations of the High Authority for Health, this screening has been extended to seven rare inherited conditions affecting metabolism. HAS also insists for this on Tuesday “The need to provide the necessary human and financial resources for the implementation of this screening and monitoring of newborns throughout the region”
. (TagsToTranslate) Diseases and Treatments
Source link
This is a new record that scientists from the Korea Fusion Energy Institute (KFE) have…
Damages associated with drought, floods, hail and other increasingly violent events are expected to increase…
An estimated 9 million people in the United States are still waiting for their final…
The death of seven humanitarian workers from the American NGO World Central Kitchen in an…
Today, at one o'clock in the morning, Gamer updates it Boutique de Fortnite Through the…
The Basic Instinct and Casino actress looks back at a time in Hollywood when adapting…