Dados do Trabalho

Título

MAPLE SYRUP URINE DISEASE: PAST, PRESENT, FUTURE AT THE REFERENCE CENTER OF A STATE IN NORTHEAST BRAZIL

Introdução

Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting from the accumulation of leucine, isoleucine and valine. The classic form is more common, in which there are neurological signs and symptoms, coma, and death from the third or fifth day of life. Treatment is based on diet and liver transplantation.

Objetivo

To report the past and present experience of a reference center (CR) in leucinosis treatment in Northeast Brazil and the perspective for the future.

Métodos

Retrospective, descriptive, observational study carried out at a reference center for genetic diseases in the Northeast related to the treatment of leucinosis from 2000 to 2022.

Resultados

We had 12 cases (5F:7M) without familial recurrence. From 2000-2008 the CR had 2 cases, a geneticist and a nutritionist for treatment. Diagnostic tests were sent to the genetics service at Hospital de Clínicas de Porto Alegre (HCPA) and took 15 days to produce results. The government had no formula, and it was still necessary to wait for a bid to start treatment. All cases evolved to death. From 2009-2017 we had 5 cases and from 2018, 5 cases. We currently rely on the Brazilian Maple Syrup Network (HCPA) and test results began to be delivered in 7 to 10 days. We have 2 neurologists in the group. Some patients did not die, the government started to have a formula for the treatment. Molecular tests gave us an earlier diagnosis, but the difficulty in performing the diet, the lack of knowledge on the part of physicians, especially neurologists and pediatricians, contributed to inadequate therapeutic measures. All cases had neurological impairment. Only 2 cases were consanguineous and all were from the interior of the state. In the future, we hope that neonatal screening for leucinosis will contribute to early diagnosis/treatment, reducing neurological impairment and morbidity and mortality.

Conclusões

In the past, all cases were of late diagnosis/treatment. Currently, all cases are neurologically compromised, but we have reduced diagnosis time and improved therapy. In the future, we hope that neonatal screening will contribute to a higher quality of diagnosis/therapy, improving patients' quality of life. Pediatricians and neurologists must learn about the treatment of the disease to reduce neurological damage.

Palavras chave

Maple Syrup Urine Disease; Therapeutics; Genetics

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Eu, Erlane Marques Ribeiro, declaro que nenhum dos autores do trabalho Maple syrup urine disease: past, present, future at the Reference Center of a state in Northeast Brazil , tem conflito de interesse

Fortaleza, 22/8/22

Área

Erros inatos do metabolismo