Anaesthetic considerations in a child with methylmalonic acidemia and its literature review

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.

Anesthetic management of a pediatric patient with methylmalonic acidemia combined with hyperhomocysteinemia: A case report

“…Nevertheless, hypervolemia or metabolic alkalosis can lead to the development or worsening of cerebral edema. Consequently, it is recommended to implement goal‐directed fluid therapy and correct the acid–base balance 8 . It is important to avoid prolonged fasting before surgery, as extended periods of fasting can lead to hyperglycemia, protein breakdown, gluconeogenesis, elevated blood ammonia levels, and worsened condition.…”

“…Consequently, it is recommended to implement goal-directed fluid therapy and correct the acid-base balance. 8 It is important to avoid prolonged fasting before surgery, as extended periods of fasting can lead to hyperglycemia, protein breakdown, gluconeogenesis, elevated blood ammonia levels, and worsened condition. Age-appropriate intravenous glucose infusions can be administered prior to the operation, at various concentrations.…”