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.
Pediatric intellectual disability can be caused by a variety of factors, including bacterial infections during pregnancy, improper medication use, falls, malnutrition, and drug abuse. Birth defects may occur due to premature birth, difficult labor, infant asphyxia, bacterial infections, or low birth weight, leading to poor brain development or damage. In the infant and toddler stage, seizures, hypoglycemia, bacterial infections such as meningitis, jaundice, malnutrition, or accidental brain injuries can disrupt intellectual development.