Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

Fıçıcıoğlu, Can; Gilovich, Thomas; Yager, Claire; Gallagher, Paul R.; Hussa, Christie; Mattie, Andrea; Day‐Salvatore, Debra; Forbes, Brian J.

doi:10.1016/j.ymgme.2008.09.005

Cited by 69 publications

(62 citation statements)

References 15 publications

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“…Prior reports state that Duarte galactosemia is identified at least 10 times as frequently as classic galactosemia in some US populations (Ficicioglu et al 2008), and the data reported here corroborate that prevalence (Fig. 2 and Supplementary Table 2).…”

Section: What To Do About Duarte Galactosemia?supporting

confidence: 88%

“…As explained previously (Ficicioglu et al 2008), while classic galactosemia occurs with a prevalence of 1/40,000 to 1/60,000 infants, DG is identified in approximately 1/4,000 Caucasian infants, making DG approximately 10 times as common as classic galactosemia among US newborns. Fernhoff (2010) also confirmed this ratio, noting that of 405,000 newborns screened in a 3-year period in the state of Georgia, eight were identified with classic galactosemia and 83 were identified with DG.…”

Section: Classic and Duarte Galactosemiamentioning

confidence: 70%

“…A study by Ficicioglu and colleagues testing developmental outcomes in 28 children with DG, including both children who had and children who had not consumed lactose in early childhood, found no evidence of developmental delay in either group (Ficicioglu et al 2008), but the mean age in both groups was less than 4 years. In contrast, Powell and colleagues noted that children with DG were significantly overrepresented in a cohort of students receiving special educational resources in elementary school (Powell et al 2009).…”

Section: What To Do About Duarte Galactosemia?mentioning

confidence: 98%

“…2b). Considering the prevalence of DG (estimated at close to 1/4,000 Caucasian newborns screened (Ficicioglu et al 2008)), this uncertainty affects a large number of infants and families, and diagnosis and follow-up care for these infants adds considerably to the combined cost of NBS. Interrupting breastfeeding of infants who may not be at increased risk of negative consequences from milk exposure is also problematic and raises an ethical dilemma for both caregivers and families.…”

Section: What To Do About Duarte Galactosemia?mentioning

confidence: 99%

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Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

et al. 2014

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It has been 50 years since the first newborn screening (NBS) test for galactosemia was conducted in Oregon, and almost 10 years since the last US state added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening for galactosemia is a success story, but not yet a story with a completely happy ending. NBS, follow-up testing, and intervention for galactosemia continue to present challenges that highlight gaps in our knowledge. Here we compare galactosemia screening and follow-up data from 39 NBS programs gathered from the states directly or from public sources. On some matters the programs agreed: for example, those providing relevant data all identify classic galactosemia in close to 1/50,000 newborns and recommend immediate and lifelong dietary restriction of galactose for those infants. On other matters the programs disagree. For example, Duarte galactosemia (DG) detection rates vary dramatically among states, largely reflecting differences in screening approach. For infants diagnosed with DG, >80% of the programs surveyed recommend complete or partial dietary galactose restriction for the first year of life, or give mixed recommendations; <20% recommend no intervention. This disparity presents an ongoing dilemma for families and healthcare providers that could and should be resolved.

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Section: What To Do About Duarte Galactosemia?supporting

confidence: 88%

Section: Classic and Duarte Galactosemiamentioning

confidence: 70%

Section: What To Do About Duarte Galactosemia?mentioning

confidence: 98%

Section: What To Do About Duarte Galactosemia?mentioning

confidence: 99%

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Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

et al. 2014

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“…Only two prior studies have addressed this question. One, by Ficicioglu and colleagues (Ficicioglu et al 2008), involved direct testing of 28 toddlers and young children with DG, of whom 17 (mean age 3.5 years) consumed a lactose-restricted diet for their first year of life and 11 (mean age 2.2 years) consumed milk. Mean test scores for adaptive behavior, language, and cognitive development for both groups of children were within one standard deviation (1SD) of the reference mean, suggesting no significant deficits.…”

Section: Introductionmentioning

confidence: 99%

Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

et al. 2014

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Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from partial impairment of galactose-1P uridylyltransferase (GALT). Although infants with DG are detected by newborn screening in some US states at close to 1/4,000 live births, most are discharged from follow-up very early in life and there is no consensus on whether these children are at increased risk for any of the long-term developmental delays seen in classic galactosemia. There is also no consensus on whether infants with DG benefit from dietary restriction of galactose. Reflecting the current uncertainty, some states choose to identify infants with DG by newborn screening and others do not. As a first step toward characterizing the developmental outcomes of school-age children with DG, we conducted a pilot study, testing 10 children with DG and 5 unaffected siblings from the same group of families. All children tested were between 6 and 11 years old. We used standardized direct assessments and parent-response surveys to collect information regarding cognition, communication, socio-emotional, adaptive behavior, and physical development for each child. Despite the small sample size, our data demonstrated some notable differences between cases and controls in socio-emotional development, in delayed recall, and in auditory processing speed. These results confirm that direct assessment of school-age children with DG can detect subtle but potentially problematic developmental deficits, and underscore the need for a larger study which has sufficient power to evaluate these outcomes while controlling for potentially confounding factors.

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Galactose toxicity in animals

2009

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SummaryIn most organisms, productive utilization of galactose requires the highly conserved Leloir pathway of galactose metabolism. Yet, if this metabolic pathway is perturbed due to congenital deficiencies of the three associated enzymes, or an overwhelming presence of galactose, this monosaccharide which is abundantly present in milk and many non-dairy foodstuffs, will become highly toxic to humans and animals. Despite more than four decades of intense research, little is known about the molecular mechanisms of galactose toxicity in human patients and animal models. In this contemporary review, we take a unique approach to present an overview of galactose toxicity resulting from the three known congenital disorders of galactose metabolism and from experimental hypergalactosemia. Additionally, we update the reader about research progress on animal models, as well as advances in clinical management and therapies of these disorders.

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Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

Cited by 69 publications

References 15 publications

Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

Galactose toxicity in animals

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