Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

• Main Authors: Paula Sánchez-Pintos (Author), Maria José Camba-Garea (Author), Beatriz Martin López-Pardo (Author), Jose A. Cocho de Juan (Author), M. Dolores Bóveda (Author), Sofia Barbosa-Gouveia (Author), Maria E Vázquez-Mosquera (Author), Francisco Barros-Angueira (Author), Raquel Fernández Patiño (Author), Maria L. Couce (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The recommended diet attitude in the recently described galactose mutarotase (GALM) deficiency is not yet established. We describe two 9-years twins who remain asymptomatic despite prolonged partial dietary liberalization from 18 months of age, after two periods of galactose-free...