Estudo Clínico-Epidemiológico da Doença da Urina do Xarope do Bordo, no Estado da Bahia (2001-2017)

Abstract

Clinical-Epidemiological Study of Maple Syrup Urine Disease in the State of Bahia (2001-2017). Maple Syrup Urine Disease (MSUD), also called leucinosis, is an innate error in metabolism caused by deficiency of thiamine-dependent branched-chain α-keto acid dehydrogenase complex (BCKDC or BCKDH complex). Inherited in an autosomal recessive way, MSUD has varied clinical manifestations due to the enzymatic activity, being able to present itself in the following forms: classic, intermediate and intermittent. The diagnosis of this pathology is confirmed by clinical changes and detection of high levels of branched chain amino acids (BCAAs), leucine, isoleucine and valine. Through early diagnosis, there is an improvement in life quality, and, consequently, an increase in life expectancy of affected neonates. Objective: To evaluate the clinical characteristics of MSUD in a group of patients followed up at the Serviço de Referência em Triagem Neonatal (SRTN) of the State of Bahia, thus helping to better understand the disease. Methodology: This is a cross-sectional study whose main tool is the analysis of medical records of patients screened at the Serviço de Referência em Triagem Neonatal (SRTN/BA) between 2001 and 2017. Results: Ninety-four neonates were reconvoked by isoleucine alteration, and the diagnosis of MSUD was confirmed in 20 of these. Nine neonates died before the institution of treatment and 11 patients are being followed up at APAE-Salvador. The average age range of the collection of the heel prick test was 8 ± 5.9 days old. The age of onset of the first clinical manifestations in the patients who were followed up was of 8.9 ± 4 days old. The main clinical manifestations presented by the patients were: seizures (45.5%), weak suction (36%), spasticity (27%) and weight loss (18%). Conclusion: There was an increase in the number of patients screened for MSUD confirmation from the inclusion of the investigation of this pathology in the heel prick test until 2017. However, some patients still have a delay in diagnosis and, consequently, in the beginning of the treatment. Since MSUD is a condition that has high morbidity and mortality when treatment is not introduced soon, measures that lead to greater efficacy and speed of detection should be implemented.