Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (12 IIIa, 1 IIIb), 1 (0.8%) type IV, 6 (4.5%) type VI, and 49 (37.1%) with type IX (28 IXa, 7 IXb, and 14 IXc). Type I patients presented earlier (4 months) and had more episodes of hypoglycemia at clinical presentation (p < 0.001). Anthropometric data at admission revealed impaired growth, with a tendency toward short stature across the groups (median -2.06, -1.89, and -1.96 among type I, III, and IX respectively). The median body mass index (BMI) z-scores at admission for all three types were above +1. Only patients with type IX demonstrated significant improvement in height (p = 0.007) and BMI (p = 0.020) z-scores during follow-up. Regarding laboratory tests, significant decreases were observed in total cholesterol, triglycerides, venous lactate and aminotransferases in patients with types I and IX. Hepatic GSDs are heterogeneous diseases. There is a significant height impairment with a troublesome trend to overweight and obesity, especially in type I. Although there is improvement in aminotransferases, cholesterol, and triglycerides with follow-up, adherence to treatment remains a challenge.

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Journal
American Journal of Medical Genetics Part A
Published
2026-03-09
DOI
https://doi.org/10.1002/ajmg.a.70115
Primary Topic
Glycogen Storage Diseases and Myoclonus
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article
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article

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

Roberta Vacari de Alcantara, Alexandre Rodrígues Ferreira, Jussara Melo de Cerqueira Maia, Eleonora Druve Tavares Fagundes et al.
American Journal of Medical Genetics Part A
Glycogen Storage Diseases and Myoclonus
article

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

Roberta Vacari de Alcantara, Alexandre Rodrígues Ferreira, Jussara Melo de Cerqueira Maia, Eleonora Druve Tavares Fagundes, Daniela Góis Meneses, Ana Cristina Vieira de Melo, Regina Sawamura, Cibele D.F. Marques, Gabriel Hessel, Letícia Helena Caldas Lopes, Gilda Porta, Adriana María Alves De Tommaso, Mariana Pena COSTA, Thaís Costa Nascentes Queiroz, Rodrigo Rezende Arantes, Elisa de Carvalho, Rafaella Karen Sousa Monterlei, Irene Kazue Miura, Marise Helena Cardoso Tofoli, Maria Júlia Rodrigues Teixeira de Araújo, Maria Tereza Galvão Guiotti, Lucas Rocha Alvarenga, Adriana Teixeira Rodrigues, Maria Ângela Bellomo‐Brandão
article en

Abstract

To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (12 IIIa, 1 IIIb), 1 (0.8%) type IV, 6 (4.5%) type VI, and 49 (37.1%) with type IX (28 IXa, 7 IXb, and 14 IXc). Type I patients presented earlier (4 months) and had more episodes of hypoglycemia at clinical presentation (p < 0.001). Anthropometric data at admission revealed impaired growth, with a tendency toward short stature across the groups (median -2.06, -1.89, and -1.96 among type I, III, and IX respectively). The median body mass index (BMI) z-scores at admission for all three types were above +1. Only patients with type IX demonstrated significant improvement in height (p = 0.007) and BMI (p = 0.020) z-scores during follow-up. Regarding laboratory tests, significant decreases were observed in total cholesterol, triglycerides, venous lactate and aminotransferases in patients with types I and IX. Hepatic GSDs are heterogeneous diseases. There is a significant height impairment with a troublesome trend to overweight and obesity, especially in type I. Although there is improvement in aminotransferases, cholesterol, and triglycerides with follow-up, adherence to treatment remains a challenge.

American Journal of Medical Genetics Part A
Universidade Federal de Minas Gerais (BR), Universidade Federal da Bahia (BR), Universidade de Ribeirão Preto (BR), Universidade de São Paulo (BR), Universidade Estadual de Campinas (UNICAMP) (BR), Universidade Federal de Sergipe (BR), Universidade Federal do Rio Grande do Norte (BR), Support group for adolescents and children with cancer (BR), Hospital Universitário Onofre Lopes (BR), Dr. Euryclides Hospital de Jesus Zerbini (BR), Hospital Universitário de Brasília (BR), Hospital Infantil Albert Sabin (BR), Universidade Federal de Goiás (BR), Universidade Federal de São Paulo (BR)
Good health and well-being
Openalex Percentile: Top 28%
Glycogen Storage Diseases and Myoclonus
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