title: Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis.
abstract: We 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.
authors.affiliation: Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Sato
authors.forename: Koji
authors.initials: K
authors.lastname: Muroya
authors.forename: Junko
authors.initials: J
authors.lastname: Hanakawa
authors.forename: Yumi
authors.initials: Y
authors.lastname: Asakura
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Moyoko
authors.initials: M
authors.lastname: Tomiyasu
authors.forename: Go
authors.initials: G
authors.lastname: Tajima
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Masanori
authors.initials: M
authors.lastname: Adachi
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000032:analysis; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D006801:Humans; D007231:Infant, Newborn; D008214:Lymphocytes / Q000737:chemistry*; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis*; D066244:Proton Magnetic Resonance Spectroscopy / Q000379:methods*; D015203:Reproducibility of Results
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate
keywords: early diagnosis; maple syrup urine disease; metabolic crisis; neonate; proton magnetic resonance spectroscopy