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Author Notes:

Correspondence to: Judith L. Fridovich-Keil, Department of Human Genetics, Emory University School of Medicine, Rm. 325.2 Whitehead Bldg., 615 Michael St, Atlanta, GA 30322 TEL 404-727-3924, FAX 404-727-3949, jfridov@emory.edu.

Allison Frederick assembled much of the data for this project, generated all of the figures, and contributed to editing of the manuscript.

Dave Cutler performed all of the statistical analyses for this project and contributed to writing and editing of the manuscript.

Judy Fridovich-Keil designed the project, contributed to data collection, coordinated the activities of the other authors, and wrote most of the manuscript.

We are especially grateful to the many families and individuals who participated in this study, and to the Galactosemia Foundation (www.galactosemia.org) through which most patients and controls were recruited.

Without them, none of this work would have been possible.

We also thank Dr. Sandy Van Calcar who provided guidance for our diet survey, and Dr. Ayanna M. Butler-Cephas and Erica L. Ditkoff for their assistance in gathering some of the growth data used here.

Allison Frederick declares that she has no conflict of interest.

Dave Cutler declares that he has no conflict of interest.

Judy Fridovich-Keil declares that she has no conflict of interest.

Subjects:

Research Funding:

This work was funded in part by a grant from the Galactosemia Foundation (to JLFK) and in part by grant DK107900 from the National Institutes of Health (also to JLFK).

This work was funded in part by a grant from the Galactosemia Foundation (to JLFK) and in part by NIH grant DK107900 (also to JLFK).

The authors confirm independence from the sponsors; the content of this article was not influenced by the sponsors.

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Endocrinology & Metabolism
  • Genetics & Heredity
  • Medicine, Research & Experimental
  • Research & Experimental Medicine
  • OVARIAN-FUNCTION
  • MANAGEMENT
  • BEHAVIOR
  • PATIENT
  • GIRLS
  • WOMEN

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia

Journal Title:

Journal of Inherited Metabolic Disease

Volume:

Volume 40, Number 6

Publisher:

, Pages 813-821

Type of Work:

Article | Post-print: After Peer Review

Abstract:

One of many vexing decisions faced by parents of an infant with classic galactosemia (CG) is how carefully to restrict non-dairy galactose from their growing child’s diet. Until recently, many experts recommended vigorous lifelong dietary restriction of milk and all high-galactose dairy products as well as some non-dairy sources of galactose such as legumes and specific fruits and vegetables. Recently, experts have begun to relax their recommendations. The new recommendations, that restrict only high galactose dairy products, were made in the face of uncertainty, however, because no sufficiently powered study had been reported testing for possible association between rigor of non-dairy galactose restriction and severity of long-term outcomes in CG. Here we describe the largest study of diet and outcomes in CG reported to date, conducted using information gathered from 231 patients with CG and 71 unaffected sibling controls. We compared rigor of dietary galactose restriction, measured using a 4-point scale by a retrospective parent-response survey, with outcomes including growth, adaptive behaviors, receipt of speech therapy, receipt of special educational services, and for girls and women, a plasma marker of ovarian function (AMH). Our results confirmed the expected differences between patients and controls, but among patients showed no significant association between rigor of non-dairy galactose restriction in early childhood and any of the outcomes quantified. Indeed, some weak associations were seen suggesting that rigorous restriction of non-dairy galactose may be deleterious rather than beneficial. Despite limitations, these findings support the ongoing trend toward diet liberalization with regard to non-dairy sources of galactose for children and adults with classic galactosemia.

Copyright information:

© 2017, The Author(s).

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