Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile
J. inborn errors metab. screen
;
9: e2021000, 2021. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1287005
ABSTRACT
Abstract Introduction:
Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms. The treatment consists of a low lysine (Lys) diet, protein substitute lys-free, tryptophan-reduced (PS) and L-carnitine.Objectives:
Describe the clinical and nutritional evolution of a cohort of GA-1 patients at a national referral center in Chile.Methodology:
Retrospective study of 24 patients diagnosed with GA-1 between 1998-2020 and referred to the Institute of Nutrition and Food Technology (INTA) of University of Chile.Results:
Age at diagnosis was 19±27 months; 10/24 presented AEC and neurological sequelae. The cases without AEC (14/24) 8 presented neurological compromise psychomotor development delay, abnormal movements and pyramidal syndrome. Nutritional evaluation 12/24 were malnourished by deficiency, <6 years old group (12/24) 11 cases were found to have Lys and PS, ≥6 years old (12/24) 9/12 did not receive PS. All had normal free carnitine levels.Conclusion:
GA-1 has variable symptoms with neurological involvement AEC or insidious start. Is essential to maintain a long-term follow-up and consider its inclusion in neonatal screening programs.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Tipo de estudo:
Estudo observacional
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Universidad de Chile/CL
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