Maple Syrup Disease: Diagnosis and Therapy

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-16-6-8

Keywords:

Maple Syrup Disease, Blood Specimens, Eighteen Additional Infants

Abstract

Infants at high risk for maple syrup disease (MSD) were identified by family history and molecular testing for the Y393N mutation of the E1a subunit of the branched chain a-ketoacid dehydrogenase in a study at Johns Hopkins University School of Medicine, Baltimore, MD.

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Published

2002-06-01

Issue

Vol 16, No 06 | Jun 2002

Section

Metabolic Disorders

License

Copyright (c) 2002 The Author(s)

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