Correction to: Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (Genetics in Medicine, (2025), 27, 1, (101289), (S1098360024002235), 10.1016/j.gim.2024.101289)

Correction to: Genetics in Medicine 2025; https://doi.org/10.1016/j.gim.2024.101289 In the article, “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG),” by Smith WE et al (Genet Med 2025;27:101289), an update was made to Recommendation 2, which appears on page 4. In the original published version of this ACMG Practice Guideline, Recommendation 2 read “ACMG recommends maintaining Phe ≤360 μmol/L for life in individuals with PAH deficiency because it is associated with higher IQ levels.” It was rated as a “Strong recommendation, based on high certainty of evidence.” Based on feedback from Burgard et al, the authors removed “for life” from Recommendation 2 to now read “ACMG recommends maintaining Phe ≤360 μmol/L in individuals with PAH deficiency because it is associated with higher IQ levels.” The authors acknowledged that the strength of evidence to suggest a fixed lifetime value is not as strong. The authors subsequently revised the certainty of evidence from high to moderate. As a result of this modification, sentences on several pages of the Practice Guideline have been updated to ensure consistency in messaging. Below, we outline the changes throughout the Practice Guideline in sequence: Abstract Point 2 of the Results section should state: “(2) individuals with Phe levels ≤360 μmol/L have better intellectual outcomes than those who do not.” The Conclusion should read: “We strongly recommend maintenance of Phe ≤360 μmol/L (using plasma or whole blood) for optimal intellectual outcomes and for reduced teratogenicity, utilizing all available and necessary dietary, pharmaceutical, and patient-educational modalities.” Body of the Manuscript On page 3, under the heading “SER”, point 1 should appear as follows: “(1) individuals who achieved a Phe level of ≤360 μmol/L had higher IQ scores.” On page 4, beneath the Recommendations section, Recommendation 2 has been updated to the following: “Recommendation 2: ACMG recommends maintaining Phe ≤360 μmol/L in individuals with PAH deficiency because it is associated with higher IQ levels. (Strong recommendation, based on moderate certainty of evidence.)” On pages 4-5, the following revisions to the discussion section beneath Recommendation 2 have been made: “Across 14 studies that were meta-analyzed in the SER, significantly higher mean IQ scores, 106.38 (95% CI = 101.38-111.39), were observed in participants who maintained mean blood Phe level of ≤360 μmol/L, in contrast to the lower mean IQ scores, 101.95 (95% CI = 100.75-103.15), reported in studies in which participants’ mean blood Phe levels were >360 μmol/L (P <.01). Although studies included in the meta-analysis may have used the term lifetime Phe to define the mean Phe value presented in their respective publications, their definitions may have varied. Furthermore, the subgroup of studies with individuals with PAH deficiency and mean Phe ≤360 μmol/L were primarily young children. With this, the workgroup acknowledges that it is currently challenging to support an evidence-based recommendation for lifetime Phe maintenance using existing data. However, the workgroup continues to recommend maintenance of lower blood Phe levels (ie, ≤360 μmol/L) to optimize an individual’s likelihood of achieving better outcomes throughout life.” On page 8, under the heading “Conclusion”, the first sentence has been modified, and the second sentence was removed: “The evidence supports maintenance of blood Phe ≤360 μmol/L to obtain optimum intellectual outcomes in all individuals with PAH deficiency, including neonatal outcomes in maternal PAH deficiency, utilizing all available and necessary dietary and pharmaceutical modalities available.” The authors regret the errors.