Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air

Area of Science:

• Biochemistry
• Neonatal Medicine
• Metabolic Disorders

Background:

• Classic galactosemia results from impaired galactose-1-phosphate uridyltransferase (GALT) activity.
• Early diagnosis and treatment prevent acute neonatal complications like sepsis and death.
• Chronic issues including ataxia, tremor, and ovarian failure can persist despite early treatment.

Purpose of the Study:

• To assess the feasibility of newborn screening for GALT deficiency using a simplified breath test before nursery discharge.
• To determine if earlier intervention via screening can prevent both acute and chronic manifestations of galactosemia.

Main Methods:

• Developed a simplified "breath test" to quantify total body oxidation of C-D-galactose to CO2 in expired air.
• Compared galactose oxidation in normal newborns (2 hours to 2 months) with children diagnosed with GALT deficiency.
• Quantified total body galactose oxidation (TBGO) in expired air.

Main Results:

• No significant differences in TBGO were observed in normal newborns up to 48 hours of age.
• A twofold increase in TBGO was noted in normal newborns within their first two weeks of life.
• Children with galactosemia exhibited significantly lower galactose oxidative capacity compared to normal newborns.

Conclusions:

• Newborn breath testing for TBGO is a feasible screening method before nursery discharge.
• This screening method holds potential for preventing acute neonatal toxicity.
• The test may aid in understanding the mechanisms behind long-term complications like ovarian failure, dyspraxia, ataxia, and tremors.