Causes of Pediatric Galactosemia

This condition is a chromosomal recessive genetic disorder. Affected children lack the enzyme Gal-1-PUT in their red blood cells and liver cells, which is responsible for converting galactose-1-phosphate into glucose-1-phosphate. Due to the deficiency of this enzyme, galactose-1-phosphate cannot be normally converted, leading to an accumulation of galactose and galactose-1-phosphate in the bloodstream and tissues.
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