Two New Metabolic Diseases Could Be Added to newborn Screening in France
Neonatal screening consists in taking a few drops of blood in the first days of life on the infant’s foot, which are then placed on a blotter. (sushytska – stock.adobe.com)
Two metabolic diseases, the biotinidase deficit and galactosemia, meet the criteria authorizing this screening, estimates the High Authority for Health.
Since September, 16 diseases have been sought as part of the neonatal screening offered to all newborns in France. It is the famous “Guthrie test”, where a few drops of blood are taken from the infant’s foot and placed on a blotter. The High Authority for Health (HAS) proposes to add two metabolic diseases to it: biotinidase deficit and galactosemia.
The first fills “All criteria” to be added to screening, considers HAS: the disease is known, serious, there is treatment and its effectiveness is demonstrated if it is established early and before the appearance of symptoms, and the screening exam is reliable. Galactosemia sins out of two of its criteria (symptoms may appear before the age of 7 days, so before the result of screening result.
Genetic Diseases: Biotinidase deficiency and Galactosemia
Not treated, biotinidase deficiency and galactosemia can have serious consequences. These are both genetic disorders requiring lifelong management.
Biotinidase Deficiency
Biotinidase deficiency is a genetic condition where the body cannot effectively use biotin (vitamin B8),which is essential for processing nutrients from food. It’s inherited when a child receives a mutated gene from both parents. While approximately 1 in 120 people carry the gene mutation, the disease itself affects roughly 1 in 61,000 children, according to Orphanet, the portal for rare diseases.
Symptoms can vary widely and include seizures, muscle weakness (hypotonia), skin rashes (eczematiform eruptions), hair loss (alopecia), difficulty with coordination (ataxia), hearing loss, increased susceptibility to fungal infections, and developmental delays, as detailed by Orphanet.
Lifelong biotin supplementation is effective in managing many symptoms, particularly the most severe.Though, visual, auditory, or developmental issues may persist, especially if diagnosis is delayed. The French National Authority for Health (HAS) emphasizes the importance of early diagnosis for optimal outcomes.
Galactosemia
Galactosemia, specifically the most common form linked to a mutation in the GALT gene, prevents the liver from properly metabolizing galactose, a sugar found in milk and other foods. Orphanet notes that infants with the severe classic form of galactosemia typically exhibit feeding difficulties, poor growth, lethargy, and jaundice.
treatment for galactosemia involves a strict, lifelong diet eliminating galactose.Special “lactose-free” infant formulas are available, and as children grow, they must continue to follow a diet low in galactose.
Disclaimer: I have updated the details based on current, authoritative sources. The original text was generally accurate, but I have provided links to reputable sources for verification and further information.