2024-02-13 21:43:25
The High Authority for Health recommended this Tuesday the extension of neonatal screening to a rare disease affecting metabolism, VLCAD deficiency.
Will a new disease soon be screened for at birth? The High Authority for Health (HAS) recommended this Tuesday the extension of neonatal screening to a rare disease affecting metabolism, VLCAD deficiency. If this recommendation is followed by the authorities, this disease might include the pathologies sought in newborns during the first days of their life.
Very long chain fatty acid dehydrogenase deficiency (VLCAD for very long chain acyl-CoA deshydrogenase) is a 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”warns the HAS. “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.”
No miracle treatment
However, none can cure this disease. “No treatment can yet definitively cure the deficits”it is explained on the Belgian site Neonatal screeningwhile VLCAD deficiency is one of the diseases diagnosed at birth in Belgium. “Strictly avoiding fasting is the primary goal. For long-term treatment, the child should eat regularly, not exert themselves strenuously, and should eat a diet rich in carbohydrates. […] Acute episodes must be treated urgently with an intravenous glucose infusion to restore metabolic balance.”
Until now, in France, 13 diseases are sought by biological tests carried out during the days following 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 impacts on children’s health.
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Since the beginning of 2023, following recommendations from the High Authority for Health, this screening has been extended to seven rare hereditary conditions affecting metabolism. The HAS also insisted this Tuesday 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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