HAS recommends screening from birth

The High Authority for Health (HAS) now recommends screening from the first days after birth VLCAD deficiency.

Newborn screening is a public health intervention aimed at detecting certain rare but serious diseases at birth. The challenge is to implement appropriate measures before symptoms appear to avoid or limit the negative consequences of these diseases on children’s health.

In France, this screening is the subject of a national program. Thirteen diseases are currently detected by biological tests conducted using a drop of dried blood on blotting paper: phenylketonuria, congenital hypothyroidism, sickle cell anemia, congenital adrenal hyperplasia, cystic fibrosis, etc.

Why screen for VLCAD deficiency at birth?

New screening techniques have forced HAS to complete this list. “The advent of tandem mass spectrometry has made it possible to screen many inborn errors of metabolism at birth,” The organization explains.

Four diseases were thus reevaluated: citrullinemia type 1-(CIT-1), propionic aciduria (PA), methylmalonic aciduria (AMM) and VLCAD deficiency. “Among the four diseases evaluated, the current state of knowledge for three of them (CIT-1, AP, AMM) does not allow them to be proposed for a national newborn screening program” Persuade public health experts. On the other hand, they “Recommend extending newborn screening to VLCAD deficiency in the general population in France. This screening essentially involves the use of tandem mass spectrometry technology.”

They also recommend that training be provided for all health professionals involved in their proposal to expand neonatal screening and that parents be given initial information on neonatal screening during pregnancy (during the third trimester prenatal consultation).

Screening from birth: What is VLCAD deficiency?

VLCAD deficiency (very long chain fatty acid acyl-CoA dehydrogenase deficiency) is a rare inherited disease. When a child suffers from it, his body cannot absorb lipids, which leads to many serious health problems.

“Babies with VLCAD deficiency may appear healthy at birth. However, they are at risk of developing a metabolic crisis during periods of fasting (for example, when they are sick). Metabolic crisis is a serious health problem, caused by low blood sugar levels. and/or the accumulation of toxins in the blood. Symptoms of a metabolic emergency include loss of appetite, vomiting, lethargy, excessive sleepiness, and irritability. If the emergency is not treated, respiratory problems, seizures, coma, or even death may occur.

We can read on Ontario, Canada’s newborn screening site.