Anaesthesia management of a child with aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive disorder that results in a lack of neurotransmitters including serotonin, dopamine, noradrenaline and adrenaline. It is characterised by developmental delay, severe hypotonia and autonomic disturbance. In patients with this condition, catecholamine deficiency and autonomic dysfunction, resulting in haemodynamic instability under anaesthesia is a primary concern. There is increased sensitivity to exogenous catecholamines and indirect acting agents, such as ephedrine, are ineffective. Hypoglycaemia, difficult airway status and drug interactions such as with monoamine oxidase inhibitors are also of concern, and these patients are at risk of dystonic crises peri-operatively. A 6-year-old boy with aromatic L-amino acid decarboxylase deficiency presented for gastrointestinal endoscopy. Following multidisciplinary discussion, we elected to provide general anaesthesia with a propofol target-controlled infusion, which proceeded without incident. In this report, we describe the precautions taken in this case, and discuss the provision of general anaesthesia for children with rare neurometabolic disorders.