title: [Maple Syrup Urine Disease in a newborn infant].
abstract: Maple Syrup Urine Disease (MSUD) is a severe metabolic disorder secondary to an enzyme defect in the catabolic pathway of the branched chain amino acids: leucine, isoleucine and valine. Accumulation of these amino acids and derived from them alpha-keto-acids leads to encephalopathy and progressive degeneration of the nervous system in undiagnosed and hence untreated patients. Early diagnosis and elimination diet prevent complications and therefore create a possibility of both normal intellectual and physical progress. In consequence, in a few countries MSUD has been added to newborn screening programmes to create opportunity for early diagnosis especially in newborn infants before clinical symptoms are present. In the study the authors present a case report of a newborn infant with MSUD along with the current knowledge on MSUD diagnosis and treatment.
authors.affiliation: Oddział Dzieciecy, Szpital Wojewódzki nr 2, ul. Lwowska 60, 35-604 Rzeszów, Poland. drmazur@poczta.onet.pl
authors.forename: Artur
authors.initials: A
authors.lastname: Mazur
authors.forename: Jolanta
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.forename: Marta
authors.initials: M
authors.lastname: Ciebiera
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Trzeciak
authors.forename: Joanna
authors.initials: J
authors.lastname: Taybert
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kowalik
authors.forename: Mariusz
authors.initials: M
authors.lastname: Ołtarzewski
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000628:therapy*; D015997:Neonatal Screening / Q000379:methods*