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Neonatal case of classic maple syrup urine disease: Usefulness of 1 H‐MRS in early diagnosis
Author(s) -
Sato Takeshi,
Muroya Koji,
Hanakawa Junko,
Asakura Yumi,
Aida Noriko,
Tomiyasu Moyoko,
Tajima Go,
Hasegawa Tomonobu,
Adachi Masanori
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12211
Subject(s) - medicine , maple syrup urine disease , urine , maple , pediatrics , biochemistry , amino acid , botany , biology , chemistry , leucine
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.