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.
Highlights
Classic galactosemia (CG) (Fridovich-Keil and Walter 2008) is one of the most common inborn errors of metabolism identified by newborn screening in the United States (CDC 2012)
Patients were children and adults who have classic galactosemia; controls were the unaffected siblings of patients
Our goal in conducting this study was to test whether patients with CG who consumed diets more restricted for non-dairy sources of galactose experienced milder long-term outcomes, quantified as described in Materials and methods
Summary
Classic galactosemia (CG) (Fridovich-Keil and Walter 2008) is one of the most common inborn errors of metabolism identified by newborn screening in the United States (CDC 2012). Detection by newborn screening, which may or may not be pre-symptomatic, coupled with rapid dietary restriction of galactose can prevent or resolve the acute and potentially lethal symptoms of CG. Despite early detection and intervention, by early to mid-childhood many treated patients experience one or more of a constellation of long-term complications that can include speech, cognitive, and behavioral disabilities in at least half of all patients, tremor and/or other movement problems in close to 40% of patients, growth delay and low bone mineral density in many patients, and primary ovarian insufficiency (POI) in >80% of girls and young. The mechanisms and primary or secondary nature of these complications remain unclear, and the variability of long-term outcome severity among patients remains largely unexplained
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