What is VLCAD deficiency, a disease that can be detected early at birth?

The High Authority for Health has this Tuesday recommended that newborn screening be extended to a rare disease affecting metabolism, VLCAD deficiency.

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.”

There is no miracle cure

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.

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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”.