An early diagnosis leads to a good prognosis: a patient with maple syrup urine disease--screened by tandem mass spectrometry.
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism. The classic MSUD is the most severe form. The prognosis is usually guarded. The acute metabolic decompensation and neurological deterioration attribute to severe sequelae. The age of diagnosis and subsequent metabolic control are the most important determinants of long-term prognosis. We report one classic MSUD case with good outcome. The early diagnosis was achieved by tandem mass spectrometry screening. Since most MSUD patients in Taiwan are native Taiwanese, we strongly suggest routine tandem mass screening of MSUD is necessary, especially in the high-risk groups, to minimize morbidity and mortality.
Lin
Jeng-Feng
JF
Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
Chiu
Pao-Chin
PC
Hsu
Hui-Ya
HY
Lin
Shu-Ming
SM
Chen
Ying-Yao
YY
Hsieh
Kai-Sheng
KS
D000367:Age Factors; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D004032:Diet; D006801:Humans; D041943:Infant Formula; D007231:Infant, Newborn; D007442:Intubation, Intratracheal; D007532:Isoleucine / Q000097:blood / Q000378:metabolism; D007930:Leucine / Q000097:blood / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000175:diagnosis* / Q000628:therapy; D013058:Mass Spectrometry / Q000379:methods; D011379:Prognosis; D011859:Radiography; D013624:Taiwan; D016896:Treatment Outcome; D014633:Valine / Q000097:blood / Q000378:metabolism
D007532:Isoleucine; D007930:Leucine; D014633:Valine