Management of maple syrup urine disease in the peri-operative period

E McCarron; O McCormack; T Cronin; A McGowan; M L Healy; D O'Rourke; E Crushell; N Ravi; J V Reynolds

Management of maple syrup urine disease in the peri-operative period

Ir Med J. 2013 Oct;106(9):277-8.

Authors

E McCarron¹, O McCormack¹, T Cronin¹, A McGowan¹, M L Healy¹, D O'Rourke¹, E Crushell¹, N Ravi¹, J V Reynolds¹

Affiliation

¹ Trinity Centre, St James's Hospital, Dublin.

PMID: 24416851

Abstract

Maple syrup urine disease (MSUD) has an incidence of 1:125,000 newborns in Ireland. Patients, when fasting, or in a catabolic state build up toxic metabolites leading to progressive neurological dysfunction. We describe the necessary peri-operative management of a patient with MSUD who developed symptomatic gallstones requiring a laparoscopic cholecystectomy.

Publication types

Case Reports

MeSH terms

Cholangiopancreatography, Magnetic Resonance
Cholecystectomy, Laparoscopic*
Female
Gallstones / diagnosis*
Gallstones / etiology*
Gallstones / surgery*
Humans
Liver Function Tests
Maple Syrup Urine Disease / complications*
Young Adult