Biochemical and molecular study of Maple Syrup Urine Disease among Egyptian Children

Abstract

aple syrup urine disease is a rare hereditary disease affects newly born children causes accumulative effects on CNS, the symptoms starts to appear from second day of birth in the form of poor feeding with recurrent vomiting, irritability, lethargy, abnormal consciousness sand convulsions these disorders can cause irreversible mental retardation (ranging from mild to severe) and if untreated rapidly it may causes death. A former Egyptian study reported that 51 cases out 450 studied (11.3%) of mental retarded cases have confirmed positive inborn errors of amino acid metabolism. The newborn screening programs allowed early diagnosis of classic MSUD and initiation of dietary therapy, which is essential to avoid irreversible neurological damage and death, and to optimize the outcome of MSUD patients by close follow-up. The disease was firstly described at 1954, although it was a rare disease (1/180,000) but it spreads in all races as a result of recessive mutation causes failure of branched chain amimo acids catabolism (leucine, isoleucine and valine) leads to accumulation of intermediate products to represent these amino acids and cause the emergence of neurological symptoms mentioned above.