[Maple Syrup Urine Disease in a newborn infant].
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.
Mazur
Artur
A
Oddział Dzieciecy, Szpital Wojewódzki nr 2, ul. Lwowska 60, 35-604 Rzeszów, Poland. drmazur@poczta.onet.pl
Sykut-Cegielska
Jolanta
J
Ciebiera
Marta
M
Trzeciak
Jadwiga
J
Taybert
Joanna
J
Kowalik
Agnieszka
A
Ołtarzewski
Mariusz
M
D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000628:therapy*; D015997:Neonatal Screening / Q000379:methods*