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Author Notes:

Judith L. Fridovich‐Keil, Department of Human Genetics, Emory University School of Medicine, 615 Michael St., Atlanta, GA 30322. Email: jfridov@emory.edu

Judith Fridovich‐Keil initiated the project, coordinated the efforts of all coauthors, created the figure, and wrote most of the manuscript. Grace Carlock was instrumental in collecting and organizing the data, performed early data analyses, and assisted with editing the manuscript. Sneh Patel performed all statistical analyses presented and contributed to writing and editing of the manuscript. Nancy Potter was instrumental in collecting the data and assisted with editing the manuscript. Claire Coles contributed to gathering and interpreting the data and editing the manuscript.

We are grateful to the many families who participated in this study, to the colleagues who helped with recruitment and enrollment, and to PCORI for funding the original study during which these data were collected (CER‐1408‐19941 to JL Fridovich‐Keil).

The authors declare that they have no competing interests.


Research Funding:

Patient‐Centered Outcomes Research Institute, Grant/Award Number: CER‐1408‐19941; Emory University


  • Duarte galactosemia
  • acute outcomes
  • early development
  • early intervention

Acute and early developmental outcomes of children with Duarte galactosemia


Journal Title:

JIMD Reports


Volume 63, Number 1


, Pages 101-106

Type of Work:

Article | Final Publisher PDF


A recent study demonstrated that children with Duarte galactosemia (DG) do not show increased prevalence of detectable developmental complications when 6–12 years old. However, that study left unanswered whether infants with DG might be at increased risk for acute problems when drinking milk or whether children with DG younger than 6 years might show increased prevalence of perhaps transient developmental challenges. Here, we have addressed both of these questions by analyzing parent/guardian-reported data collected retrospectively for 350 children, 206 with DG and 144 unaffected siblings from the same families. The variables analyzed included whether each child had experienced (1) acute complications in infancy, (2) early intervention services when <3 years old, and/or (3) special educational services when 3–5 years old. For each case–control comparison, or case-by-diet comparison, we used logistic regression that included the following potential covariates: age, sex, race, family income, and parent education, as appropriate. We found that none of the three outcome variables tested showed significant differences between cases and controls, or among cases as a function of galactose exposure in infancy. To the limits of our study, we therefore conclude that regardless of whether a child with DG drinks milk or low-galactose formula as an infant, they are not at increased risk for acute complications or early childhood developmental challenges that require intervention.

Copyright information:

© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/rdf).
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