2024-02-14 20:16:00
VLCAD deficiency is a rare disease affecting metabolism. The High Authority for Health recommended on Tuesday the extension of neonatal screening to this disease of fatty acid oxidation, which is characterized by a deficiency of an enzyme necessary for the breakdown of lipids. “The symptoms are varied and the disease can progress very quickly, leading to death. Screening at birth will help reduce diagnostic wandering and the delay in implementing treatment which aims to prevent episodes of decompensation (…) and which seems to improve the prognosis of severe forms,” according to the HAS.
For three other metabolic diseases – citrullinemia type 1 – (CIT-1), propionic aciduria (PA), methylmalonic aciduria (AMM) – the HAS judged that “the current state of knowledge does not allow not to offer them to the national neonatal screening program. A fifth – ornithine transcarbamylase (OTC) deficiency – has not been evaluated in “the absence of a specific biological marker allowing it to be identified” by tandem mass spectrometry technology.
13 diseases researched
These recommendations may be updated depending on the evolution of scientific knowledge, the availability of reliable markers and a demonstrated individual benefit for the child screened, specified the health authority. Until now, in France, 13 diseases are sought by biological tests carried out the days following birth, using 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 impacts on children’s health. Since the beginning of 2023, following recommendations from the High Authority for Health (HAS), this screening has been extended to seven rare hereditary conditions affecting metabolism.
“Need to provide the means”
The HAS recommended on Tuesday that initial information on birth screening be given to parents during consultations in the third trimester of pregnancy. She also insisted on “the need to provide the human and financial resources necessary for the implementation of this screening and the monitoring of newborns screened throughout the territory”.
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