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Ophthalmoplegia and bulbar palsy in variant form of maple syrup urine disease
Author(s) -
Chhabria Shakuntala,
Tomasi Lawrence G.,
Wong Paul W. K.
Publication year - 1979
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410060118
Subject(s) - maple syrup urine disease , urine , medicine , maple , presentation (obstetrics) , pediatrics , disease , case presentation , surgery , chemistry , biology , biochemistry , amino acid , botany , leucine
Abstract This is the third reported case of a neonate with ophthalmoplegia in whom the diagnosis of maple syrup urine disease (MSUD) was delayed into infancy. In this case, the demonstration of significant residual branched‐chain ketoacid decarboxylase activities suggests that this atypical presentation may be characteristic of the MSUD variant form.