Health Minister Agnès Buzyn has announced that a new disease will be screened in infants from the first trimester of 2020, according to a AFP dispatch taken over by Le Monde.
Currently, five serious diseases are screened for in babies: phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis and sickle cell disease. The latter is only systematic in the overseas departments and territories and in patients at risk. It could become automatic in mainland France shortly, announced the Minister of Health.
MCAD deficiency
The sixth disease screened for is MCAD deficiency (acyl-CoA dehydrogenase of medium-chain fatty acids). It is a hereditary disease, it occurs between three and 24 months after birth. It prevents the body from using fatty acids as an energy source. Symptoms are lethargy, vomiting, with a possible fatal outcome.
Since 2011, the High Authority of Health recommends that it be screened because simple dietary rules would prevent deaths in young children. To finance the devices necessary for systematic screening, approximately 3 million euros will be made available.
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