Palavras-chave
Como Citar
Resumo
Galactosemia is an inborn error of metabolism, caused by autosomal recessive deficiency in enzymes that convert galactose to glucose. Excess galactose is converted in the liver to galactitol (alcohol of elevated toxicity), responsible for neurologic, hepatic, gastrointestinal manifestations, in varying degrees according to the mutation developed. OBJECTIVE: To observe the prevalence of galactosemia in patients with DM1 and DM2. METHODS: Group 1: patients with DM2, male gender (n=9); female gender (n=11). Group 2: patients with DM1, male gender (n=7); female gender (n=3). Group 3: Non-diabetics (n=30).
Clinical follow-up of these patients included laboratory tests and imaging studies. RESULTS: There was a higher prevalence of galactosemia in DM2 patients, in comparison to DM1 patients and non-diabetics (21.66 >3.33 >1.66). The prevalence of galactosemia in DM2 patients was higher than that found in DM1 patients (2166 >3.33). CONCLUSION: Our study found a higher prevalence of galactosemia in DM2 when compared to DM1 and a healthy population.
Referências
Smith W. Pediatric Gastrointestinal Disease, 2004; 43 (4): 880-97.
Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004;23:396.
Novelli G, Reichardt JK. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab 2000, 71:62-65.
Reichardt JK, Woo SL. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proceedings of de National Academy of Sciences 1991; 88 (7): 2633-2637.
Henderson H, Leisegang F, Brown R, Eley B. The clininal and molecular spectrum of galactosemia in patients from the cape town region of South Africa. BMC Pediatrics 2002; 2 (7).
Rojas E, Luchtemberg G, Pintos G, Solá H. Galatosemia: Presentacion, de un caso clinico, revision y actualizacion. Revista Del Hospital materno infantil Ramon Sardá 2000; 19 (1): 33-37.
Segal S, Berry GT. Disorders of galactose metabolism. In The metabolic and molecular bases of inherited diseases,1995;7(1):967-1000.
Reichardt JKV, Levy HL, Woo SL. Molecular characterisation of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyl transferase. Biochemistry 1992, 31:5430-5433.
Louis J, Elsas II, Kent Lai. The molecular biolory of galactosemia. Genetics in Medicine 1998; (1):40-48.
Berry GT, Singh RH, Mazur AT, Guerrero N, Kennedy MJ, Chen J, Reynolds R, Palmieri MJ, Klein PD, Segal S. Galactose breath testing distinguishes variat and severe galactose-1-phlsphate uridyltransferase genotypes. Pediatric Res 2000, 48:323-328.
Rogers S, Holtzapple PG, Mellman WJ, Segal S. Characteristics of galactose-1-phosphate uridyltransferase in intestinal muscosa of normal and galactosemic humans. Metabolism 1970, 19: 701-708.
Segal S, Rogers S, Holtzapple PG. Liver galactose-1-phosphate uridyltransferase: activity in normal and galactosemic subjects. Journal Clinic Invest 1971, 50:500-506.
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.
Copyright (c) 2022 Gilce Helena Vaz Tolloto, Laiz Saragiotto