Thirty-five inherited metabolic disorders including lysosomal acid lipase deficiency (LAL-D) and long chain fatty acid oxidation disorder (LCFAOD) should be included in newborn screening programs across Europe, according to a new study published in the International Journal of Neonatal Screening. This is based on a novel algorithm to expand newborn screening for inherited metabolic disorders.

Each country in Europe should evaluate the disorders recommended here in terms of economic, societal, and political aspects of potential screening programs, said Simon A. Jones, MD, and the coauthors of the study.

Inherited metabolic disorders can have devastating consequences if left untreated, but early intervention can dramatically improve long-term clinical outcomes in most cases. Newborn screening can therefore offer the opportunity to offer patients early treatment even before symptoms appear.

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Read more about the diagnosis of LCFAOD

Here, a team of researchers from the UK, France, Italy, and Switzerland evaluated a novel newborn screening algorithm to assess and prioritize inherited metabolic disorders to be included in expanded newborn screening programs across Europe to reduce the disparities in screening among different European countries.

The researchers first created a comprehensive list of 48 inherited metabolic disorders for analysis. Of those, 21 were lysosomal storage disorders, and 35 most strongly fulfilled the Wilson and Jungner classic screening principles. The authors, therefore, recommended that these 35 disorders should be considered for inclusion in expanded newborn screening programs in Europe.

The Wilson and Jungner screening principles are made of 10 principles that should be considered when making a screening decision. They were set out as normative statements about what should be known about the relative importance of a health problem, the natural progression of the disease, the characteristics of available tests and follow-up treatments, and cost-effectiveness.


Jones SA, Cheillan D, Chakrapani A, et al. Application of a novel algorithm for expanding newborn screening for inherited metabolic disorders across Europe. Int J Neonatal Screen. 2022;8(1):20. doi:10.3390/ijns8010020