Anaesthetic considerations in a child with methylmalonic acidemia and its literature review. Issue 12 (9th December 2020)

• Record Type: Journal Article
• Authors: Gupta, Anju; Dudeja, Yamini; Ramachandran, Rashmi; Subramaniam, Rajeshwari
• Is Part Of: BMJ case reports. Volume 13:Issue 12(2020)
• Publication Date: 2020-12-09
• Subjects: anaesthesia -- adrenal disorders -- metabolic disorders -- congenital disorders; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2020-237270
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Methyl malonyl coenzyme A mutase deficiency is a rare autosomal inherited inborn error in branched-chain amino acid metabolism characterised by the accumulation of methylmalonic acids. There is relative paucity of literature regarding anaesthetic management of these children presenting for incidental major abdominal surgery. Preoperative management includes goal-directed correction of dehydration, metabolic acidosis and hyperammonemia. Anaesthetic goals include avoidance of factors that can trigger metabolic crisis like hypercapnia, hypothermia, hypoxia, surgical stress, hypovolaemia, hypotension and so on. Herein, we are reporting the anaesthetic management of a 17-month-old child with methylmalonic acidemia (MMA) posted for a major upper abdominal surgery for excision of an adrenal mass, which was incidentally diagnosed during admission for an episode of metabolic crisis. We aim to highlight the specific nuances of pathophysiology of the disease, preoperative optimisation, anaesthetic considerations, role of advanced monitoring and regional anaesthesia and current literature on the management of patients with MMA.