Galactose-6-Phosphate Epimerase Deficiency
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.
Specialties that treat galactose-6-phosphate epimerase deficiency
Treatment by city
Doctors specialized in galactose-6-phosphate epimerase deficiency
Dr. Edgar Bustos Córdova
Dr. Alberto Fregoso Ojeda
Dr. Rodolfo Rivas Ruiz
Dr. Sergio Miguel Gomez Dorantes
Dr. Mercado Filomena Vizcaino
Dra. Olga Eugenia Martínez Garza
Dr. Jose Luis Balanzar Serna
Dr. Alfonso Corona Tellez
Dr. Rodriguez Francisco Herrera
Dr. Román Pineda Abarca
Dr. Escandon Hector Calles
Dr. Roberto Moreno Paez
Dr. Francisco Alvarado Alemán
Dr. Aristóteles Quintero Díaz
Dr. Jesús Isidro Pinzón Sánchez
Dr. Francisco Manuel González Hernández
Dra. Elizabeth Solano Pareja
Dr. Victor Tapia Alfaro
Dr. Julio Fraire Calleros
Dra. Gabriela Juárez Domínguez
Frequently asked questions
What is galactose-6-phosphate epimerase deficiency?
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.
Which doctor treats galactose-6-phosphate epimerase deficiency?
Galactose-6-Phosphate Epimerase Deficiency is usually treated by specialists in nephrologist, pediatrician.