Mothers' Knowledge and Practices Regarding Care of their children Suffering from Maple Syrup Urine Disease.

Maple syrup urine disease (MSUD) is a rare inherited autosomal recessive neurometabolic disorder, is brought on by diminished activity of the Branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalysis the irreversible catabolism of branched-chain amino acids (BCAAs). This disease gets its name because of its burnet sweet odor of the affected infant’s urine. Aim: the current study aimed to assess the mothers' knowledge and practices regarding care for their children suffering from Maple Syrup Urine Disease. Design: A descriptive research design was utilized to fulfill the aim of this study. Setting: The study was carried out at Genetic Out Patient Clinic in Mustafa Hassan Pediatric Hospital affiliated to El-Fayoum University Hospitals, and Abo El Rish (El Monira) hospital affiliated to Cairo University Hospitals. Sample A purposive sample consisted of 71 mothers who had children suffering from Maple Syrup Urine Disease. Tools: consists of two tools were used to conduct this study: Tool I: A structured interview questionnaire sheet to assess mothers' knowledge regarding Maple Syrup Urine Disease. Tool II: Observational checklist to assess mothers' reported practices regarding care of their children with Maple Syrup Urine Disease. Results: The study results showed that, 70.4% of studied mothers had unsatisfactory knowledge about MSUD and 67.6% of them had inadequate reported practices regarding care of their children suffering from MSUD. Conclusion: the current study concluded that the studied mothers had un satisfactory knowledge and practices about maple syrup urine disease. Recommendation: Continuous health education programs to mothers regarding Maple Syrup Urine Disease.