VLCAD deficiency is a rare disease affecting metabolism. The High Authority for Health recommended on Tuesday that newborn screening be extended for this disease of fatty acid oxidation, which is characterized by a deficiency of an enzyme needed to break down lipids. “Symptoms are varied and the disease can progress very quickly, leading to death. Screening at birth will help reduce diagnostic wandering and delays in the implementation of treatment aimed at preventing episodes of decomposition (…) and that improve the prognosis of severe forms,” according to the HAS.
For the other three metabolic diseases – citrullinemia type 1 – (CIT-1), propionic aciduria (PA), methylmalonic aciduria (AMM) – it has been determined that “the current state of knowledge does not allow them to be offered for national newborn screening. Program Tandem Ornithine transcarbamylase (OTC) deficiency has not been evaluated by mass spectrometry technology “in the absence of a specific biological marker.”
Researched 13 diseases
These recommendations may be updated based on the evolution of scientific knowledge, availability of reliable markers and demonstrated individual benefit for the child as specified by the health authority. So far, in France, 13 diseases are detected by biological tests in the days after birth, using drops 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. From the beginning of 2023, following the recommendations of the High Authority for Health (HAS), this screening has been extended to seven rare inherited conditions affecting metabolism.
“Need to provide equipment”
The HAS on Tuesday recommended that parents be given initial information about birth screening during the third trimester counselling. She also insisted on “the need to provide the necessary human and financial resources for the implementation of this screening and monitoring of screened newborns across the region”.
