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Войти в исследования Molecular genetics and metabolism · 2025
Clinical and genetic features of Classic Galactosemia in the south of Brazil.
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Simão Medeiros Leonardo, Teixeira Lucas Ferreira, Gomes Alexandra, Rivera Isabel, Lorea Cláudia Fernandes, Farret Lilia, Tirelli Kristiane Michelin, Sebastião Fernanda Medeiros, Pasetto Fernanda Bender, de Souza Carolina Fischinger Moura, de Oliveira Poswar Fabiano, Pinto Raquel Borges, Marcano-Ruiz Mariana, Sperb-Ludwig Fernanda, Vieira Sandra Maria, Schuler-Faccini Lavínia, Schwartz Ida Vanessa Doederlein
Аннотация
INTRODUCTION: Classic Galactosemia (CG) is a rare metabolic disorder that leads to acute neonatal hepatic dysfunction, with striking improvement after diet treatment. However, long-term complications, such as intellectual deficits, often persist.
AIM: To describe the demographic, clinical, and genetic features of CG in a cohort of patients from South Brazil.
METHODS: Data were retrieved through medical charts review of CG patients followed in Rio Grande do Sul, Brazil.
RESULTS: Thirty-one patients were included (families = 29; ethnicity: white = 20, indigenous Kaingang = 9, black = 2; female = 14). Five patients were diagnosed through private NBS and began treatment at a median age of 17 days (15-30), while others presented symptoms at 5 days (1-19) starting treatment at 27 days (5-4680). Eight patients presented Cerebral Palsy, Microcephaly, and/or Epilepsy, and two had died. Notable clinical findings were the "double cap sign" in Brain MRI (n = 1), pseudohyperglycemia (n = 3), and elevated chitotriosidase activity (n = 3). GALT sequencing was performed in 25/31 patients, and the most frequent causal variant found was c.563 A > G (p.Gln188Arg). Two novel variants were detected: c.164G > T (p.Gly55Val), associated with clinical variant galactosemia; and a novel haplotype c.[90dup; 529 A > G] (p.[His31Alafs*9;Met177Val]) detected in Kaingang patients. The minimal prevalence of CG in this Indigenous population was estimated in at least 1:900 live births.
CONCLUSION: This data improves the characterization of CG in symptomatic diagnosed patients and identifies a high incidence of CG in the Kaingang people due to a founder effect.
AIM: To describe the demographic, clinical, and genetic features of CG in a cohort of patients from South Brazil.
METHODS: Data were retrieved through medical charts review of CG patients followed in Rio Grande do Sul, Brazil.
RESULTS: Thirty-one patients were included (families = 29; ethnicity: white = 20, indigenous Kaingang = 9, black = 2; female = 14). Five patients were diagnosed through private NBS and began treatment at a median age of 17 days (15-30), while others presented symptoms at 5 days (1-19) starting treatment at 27 days (5-4680). Eight patients presented Cerebral Palsy, Microcephaly, and/or Epilepsy, and two had died. Notable clinical findings were the "double cap sign" in Brain MRI (n = 1), pseudohyperglycemia (n = 3), and elevated chitotriosidase activity (n = 3). GALT sequencing was performed in 25/31 patients, and the most frequent causal variant found was c.563 A > G (p.Gln188Arg). Two novel variants were detected: c.164G > T (p.Gly55Val), associated with clinical variant galactosemia; and a novel haplotype c.[90dup; 529 A > G] (p.[His31Alafs*9;Met177Val]) detected in Kaingang patients. The minimal prevalence of CG in this Indigenous population was estimated in at least 1:900 live births.
CONCLUSION: This data improves the characterization of CG in symptomatic diagnosed patients and identifies a high incidence of CG in the Kaingang people due to a founder effect.