EuropeDiagnosis and screening
5 years of newborn screening in Italy: MCAD deficiency seen in about one in 22,000 babies
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Italy, about 2 million newborns were screened between 2019 and 2023. Of these babies, 90 were diagnosed with MCAD deficiency. The frequency was calculated as one in 21,960 births. The most common gene change was seen in 63% of patients.
What does it mean for patients and families?
Early diagnosis helps prevent crises triggered by fasting. Which diseases are included in screening is decided separately in each country; consult a doctor about your child's situation.
Source
Scientific paper: Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program. International Journal of Neonatal Screening, 2025. DOI: 10.3390/ijns11040086 · PubMed 41133698
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.