Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case

I. Jen Wang, Shao Yin Chu, Chuan Yuh Wang, Pen Jung Wang, Wuh Liang Hwu

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Abstract

Maple syrup urine disease (MSUD) is a rare inborn error of the branched chain amino acid metabolism, which can be classified as classical, intermediate, intermittent, and thiamine responsive types. We report a 16-day-old boy who suffered from difficult feeding, persistent metabolic acidosis, and tricycling movement of the lower legs. Status epilepticus was the initial impression, but classical type MSUD was later diagnosed. Under the diagnosis, dietary therapy effectively prevented further neurological deterioration. However, amino acid deficiency manifested as acrodermatitis enteropathica-like skin rash occurred once. Early parenteral glucose supplementation and periodic plasma amino acid monitoring are very important in the management of metabolic diseases, including MSUD.

Original languageEnglish
Pages (from-to)246-248
Number of pages3
JournalActa Paediatrica Taiwanica
Volume44
Issue number4
Publication statusPublished - Jul 2003
Externally publishedYes

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Keywords

  • Acrodermatitis enteropathica
  • Maple syrup urine disease
  • Status epilepticus

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Wang, I. J., Chu, S. Y., Wang, C. Y., Wang, P. J., & Hwu, W. L. (2003). Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case. Acta Paediatrica Taiwanica, 44(4), 246-248.