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
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1287005
Responsible library:
BR1.1
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Type of study:
Observational study
Country/Region as subject:
South America
/
Chile
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2021
Document type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Universidad de Chile/CL