• Takeshi Sato, Koji Muroya, Junko Hanakawa, Yumi Asakura, Noriko Aida, Moyoko Tomiyasu, Go Tajima, Tomonobu Hasegawa, and Masanori Adachi.
• Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
• Pediatr Int. 2014 Feb 1;56(1):112-5.

AbstractWe describe a male neonate with classic maple syrup urine disease (MSUD) in metabolic crisis. On day 7 of life, he was referred to hospital because of coma and metabolic acidosis with maple syrup odor. On day 4 after admission, brain magnetic resonance imaging findings were consistent with encephalopathy due to MSUD. Proton magnetic resonance spectroscopy ((1) H-MRS) showed a large methyl resonance peak at 0.9 p.p.m. The diagnosis of MSUD was confirmed on low branched-chain α-keto acid dehydrogenase complex activity in lymphocyte. (1) H-MR spectra were obtained in 10 min, while it took at least several days to obtain the results of other diagnostic examinations. In convalescence, the peak at 0.9 p.p.m. decreased. The large methyl resonance peak at 0.9 p.p.m. in brain (1) H-MRS would be one of the earliest clues to the diagnosis of classic MSUD in the neonatal period, especially in metabolic crisis.© 2014 The Authors. Pediatrics International © 2014 Japan Pediatric Society.

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