Atlanta, Georgia 30322


The purpose of this study is to learn about Duarte galactosemia (DG). This study will examine the possible effects of Duarte galactosemia (DG) in children, and determine whether dietary exposure to milk in infancy or early childhood is associated with developmental outcomes of school-age children with Duarte galactosemia (DG).

Study summary:

Duarte galactosemia (DG) is an autosomal recessive genetic condition characterized by partial loss of galactose-1-phosphate uridylyltransferase (GALT), which results in partially impaired metabolism of the sugar, galactose, which is abundant in milk and also found at lower levels in many other foods. There is currently no consensus on long-term outcome prognosis for infants with Duarte galactosemia (DG) and some studies suggest these children might be at increased risk for developmental difficulties later in childhood. There is also no conclusive data on whether children with Duarte galactosemia (DG) might benefit from dietary restriction of galactose. The investigator will be assessing whether 6-12 year old children with Duarte galactosemia experience developmental disorders relative to controls, and if so, whether dietary exposure to milk in infancy or early childhood is associated with developmental outcomes in this patient population.


Inclusion Criteria: Healthy Children/Children with Duarte Galactosemia: - Age between 6-12 years Parents/Caregivers: - Primary caregiver to a child age between 6-12 years of age with/without Duarte Galactosemia Exclusion Criteria: - Chronic illness - Any condition unrelated to Duarte Galactosemia but known to cause developmental problems - Children who did not have the current parent/guardian as the primary caregiver when the child was an infant



Primary Contact:

Principal Investigator
Judith Fridovich-Keil, PhD
Emory University

Judith Fridovich-Keil, PhD
Phone: 404-727-3924

Backup Contact:


Location Contact:

Atlanta, Georgia 30322
United States

Judith Fridovich-Keil, PhD
Phone: 404-727-3924

Site Status: Recruiting

Data Source:

Date Processed: November 20, 2017

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