Maple syrup urine disease presenting with neonatal status epilepticus: report of one case.
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.
Wang
I-Jen
IJ
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Chu
Shao-Yin
SY
Wang
Chuan-Yuh
CY
Wang
Pen-Jung
PJ
Hwu
Wuh-Liang
WL
D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000209:etiology*; D008297:Male; D008375:Maple Syrup Urine Disease / Q000150:complications* / Q000175:diagnosis; D013226:Status Epilepticus / Q000209:etiology*