The announcement was made by the High Authority for Health: the neonatal screening test, carried out on all newborns, should include a new rare disease, VLCAD deficiency. What is this pathology? Why this choice ? Explanations from Dr Anna Boctor, pediatrician and vice-president of Young Doctors.
This is a new recommendation from the High Authority for Health (HAS): neonatal screening or Guthrie test, carried out on newborns by taking a drop of blood through a heel prick, should include the detection of blood deficiency. VLCAD, a metabolic disease.
What is VLCAD deficiency?
At birth, children undergo a screening test for several pathologies. “The Guthrie test makes it possible to detect several rare pathologies in these children, such as Cystic fibrosis For example. We add sickle cell disease, depending on the origin of the parents, because not all populations are at risk.” explains Dr Anna Boctor, pediatrician. A new pathology will perhaps be added to the list, it is VLCAD deficiency.
“This is a very rare metabolic disease, which is explained by an enzyme deficiency, very long-chain fatty acid dehydrogenase deficiency. VLCAD means ‘very long chain acyl-CoA dehydrogenase'” adds the specialist. The disease, very rare since it has only affected 400 children worldwide, according to the Orphanet website, is characterized by “a cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis“.
A rare disease that can lead to death
“In enzymatic diseases, the absence of the adequate enzyme to transform the substrate is deficient, it accumulates, which creates the pathology and its serious consequences. adds the pediatrician. For her, the interest in integrating this disease into the neonatal screening test would make it possible to detect the rare children carrying this genetic pathology, but also to take care of them correctly. An observation that the HAS also defends. “The symptoms are varied and the disease can progress very quickly, leading to death.“warns the health authority.
Screening from birth to save lives
“Screening at birth will help reduce diagnostic error and the delay in implementing treatment which aims to prevent episodes of decompensation (…) and which seems to improve the prognosis of severe forms. adds the HAS.
“Screening can save the lives of these children” also supports Dr. Anna Boctor. “When we know that they are sick, there is the possibility of managing their illness because in some cases, death can occur in the first weeks of life” she adds. If doctors are pleading for this integration, the authorities have not yet commented on whether this HAS recommendation will really be followed and implemented in maternity wards.
