Galactose epimerase deficiency: lessons from the GalNet registry

• Autores: Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R.; Banford, Samantha; Burlina, Alberto B.; Cabrera, Analía; Chiesa, Ana Elena; Couce, M. Luz; Dionisi Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M.; Timson, David J.; Berry, Gerard T.; Rubio Gozalbo, M. Estela
• Año de publicación: 2022
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: GALACTOSE EPIMERASE DEFICIENCY; GALACTOSE-RESTRICTED DIET; GALACTOSEMIA TYPE III; GALACTOSEMIAS NETWORK
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

Background: Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different countries included through the Galactosemia Network to further expand the existing knowledge and review the current diagnostic strategy, treatment and follow-up of this not well characterized entity. Methods: Observational study collecting medical data from December 2014 to April 2022 of 22 not previously reported patients from 14 centers in 9 countries. Patients were classified as generalized or non-generalized based on their genotype, enzyme activities in different tissues and/or clinical picture and professional judgment of the treating physician. Results: In total 6 patients were classified as generalized and 16 as non-generalized. In the generalized group, acute neonatal illness was reported in 3, cognitive and developmental delays were present in 5 and hearing problems were reported in 3. Four generalized patients were homozygous for the genetic variant NM_001008216.2:c.280G > A (p.Val94Met). In the non-generalized group, no clearly related symptoms were found. Ten novel genetic variants were reported in this study population. Conclusion: The phenotypic spectrum of GALE deficiency ranges from asymptomatic to severe. The generalized patients have a phenotype that is in line with the 9 described cases in the literature and prescribing dietary interventions is the cornerstone for treatment. In the non-generalized group, treatment advice is more difficult. To be able to offer proper counseling, in addition to red blood cell enzyme activity, genetic studies, transferrin glycoform analysis and enzymatic measurements in fibroblasts are recommended. Due to lack of facilities, additional enzymatic testing is not common practice in many centers nor a tailored long-term follow-up is performed.
Fil: Derks, Britt. Universiteit Maastricht.; Países Bajos
Fil: Demirbas, Didem. Boston Children’s Hospital; Estados Unidos
Fil: Arantes, Rodrigo R.. Universidade Federal de Minas Gerais; Brasil
Fil: Banford, Samantha. No especifíca;
Fil: Burlina, Alberto B.. No especifíca;
Fil: Cabrera, Analía. Hospital de Niños V.J. Vilela; Argentina
Fil: Chiesa, Ana Elena. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Couce, M. Luz. No especifíca;
Fil: Dionisi Vici, Carlo. No especifíca;
Fil: Gautschi, Matthias. University of Bern; Suiza
Fil: Grünewald, Stephanie. Colegio Universitario de Londres; Reino Unido
Fil: Morava, Eva. No especifíca;
Fil: Möslinger, Dorothea. Medizinische Universität Wien; Austria
Fil: Scholl Bürgi, Sabine. No especifíca;
Fil: Skouma, Anastasia. No especifíca;
Fil: Stepien, Karolina M.. No especifíca;
Fil: Timson, David J.. University Of Brighton; Reino Unido
Fil: Berry, Gerard T.. Boston Children’s Hospital; Estados Unidos
Fil: Rubio Gozalbo, M. Estela. Universiteit Maastricht.; Países Bajos