Health. Newborn screening: what are these two diseases that the HAS wants to add?

The objective of the national neonatal screening program carried out on all newborns is to intervene early to avoid or limit the consequences of these diseases on the health of children.

Until now, sixteen diseases were included in this national program. The HAS now recommends adding two new pathologies: biotinidase deficiency and classic galactosemia. What are they?

Biotinidase deficiency (BIOT) is a genetic disorder that affects the metabolism of biotin (vitamin B8). Due to this deficiency, the body cannot properly process proteins, fats, and carbohydrates.

Without early detection, this disease can cause serious symptoms in the first months of life: seizures, respiratory problems, skin infections, hearing loss, developmental delay, and in the most severe cases, coma and death from neurological damage.

Although this disease cannot be cured, its treatment consists of lifelong oral biotin supplementation, which allows children to develop normally.

Galactosemia: When milk becomes dangerous

Galactosemia is a group of diseases linked to genetic mutations affecting the metabolism of galactose, a sugar present in many foods such as dairy products.

Affected individuals cannot properly metabolize this sugar, leading to toxic accumulation in the body. According to some studies, morbidity and mortality can be high if diagnosis and treatment measures are not initiated too late.

A person with galactosemia will never be able to properly digest foods containing galactose. There is currently no chemical or drug replacement for the missing enzyme. " Treatment requires the strict exclusion of lactose/galactose from the diet ," explains the American Liver Foundation . Infants are then usually fed soy-based infant formulas. " Thanks to ongoing care and medical advances, most children with galactosemia can now lead normal lives ."