Inborn Errors of Galactosemia Metabolism
Journal Title: International Journal of Medical Research Professionals - Year 2017, Vol 3, Issue 6
Abstract
Objectives: We aimed to assess the level of galactose oxidation in both healthy and galactosemic Middle East children. Subjects & Methods: Twenty-one healthy children and seven children with galactosemia ranging from 1 to 7 years of age were studied. A breath test was used to quantitate 13CO2 enrichment in exhaled air before and at 30, 60, and 120 min after the oral administration of 7 mg/kg of an aqueous solution of 1-13C-galactose to all children. Lactose/galactose restricted formula is provided during the first ten days of life. Results: The neonatal symptoms quickly resolve and the problems related to the mentioned symptoms usually disappear. Besides detecting infants with classic galactosemia, infants with other treatable forms of galactosemia as well as those who are carriers of galactosemia or galactosemic variant are identified by newborn screening. In sick children, the cumulative percentage of 13C from labeled galactose (CUMPCD) in the exhaled air ranged from 0.03% at 30 min to 1.67% at 120 min. In contrast, healthy subjects showed a much broader range in CUMPCD, with values from 0.4% at 30 min to 5.58% at 120 min. Conclusion: The study found a significant difference in galactose oxidation between children with and without galactosemia.
Authors and Affiliations
Areej Mohammed Alatawi, Mashael Zayed Albalawi
Keywords
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- EP ID EP548485
- DOI 10.21276/ijmrp.2017.3.6.017
- Views 80
- Downloads 0
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