Galactose-6-Phosphate Epimerase Deficiency treatment in Magdalena Contreras

Galactose-6-phosphate epimerase deficiency is a very rare hereditary metabolic disorder in which the body has difficulty metabolizing galactose, a sugar found in milk, due to the lack of a specific enzyme.

Context: it is part of the galactosemia group, and its severity varies: some forms are mild and others can affect the baby's development.

What may be observed: depending on the variant, there may be discomfort with feeding, vomiting, or detection through metabolic screening.

Specialists who assess it: the pediatrician oversees the child's growth and feeding, and the nephrologist steps in if there is kidney involvement. When in doubt after an abnormal newborn screening, the recommended course is to discuss it with the pediatrician to clarify the picture.