Use of amplitude integrated electroencephalography (aEEG) in patients with inborn errors of metabolism – A new tool for the metabolic geneticist

Patients with metabolic disorders often, especially as newborns, present with encephalopathy and seizures, frequently requiring intensive care during metabolic crises. Cerebral function monitoring using amplitude integrated electroencephalography (aEEG) can be utilized to supplement clinical assessment and other monitoring already in use in the intensive care setting. In this technique, a one or two-channel EEG tracing is obtained, processed, compressed and displayed. Use of aEEG is well established in evaluation and treatment of newborns with hypoxic ischemic encephalopathy. The basis of aEEG interpretation is the recognition of patterns which have been defined for different degrees of encephalopathy. Seizures are identified on the compressed tracing in combination with analysis of the corresponding raw EEG tracing. This review discusses the experience, although limited at this time, with use of aEEG in infants with inborn errors of metabolism. Through an international collaborative, the International Registry for Cerebral Function Monitoring in Patients with Genetics Disorders and Brain Malformations, aEEG tracings of patients with inborn errors of metabolism were collected. The features of 25 traces are included in this review. This collection includes patients with hyperammonemia (HA, n = 4), disorders of energy metabolism (DEM, n = 9), disorders of amino and organic acid metabolism (DAOAM, n = 7), and peroxisomal disorders (PD, n = 5). Fifteen of 25 patients demonstrated encephalopathic changes, including patients with HA, DEM and DAOAM, but not PD. In 15 of 25 patients seizure potentials were identified. In HA, DEM, and DAOAM both encephalopathy and seizures may coincide, while in peroxisomal disorders seizures were seen without background patterns indicating encephalopathy, likely due to neuronal migration defects as the underlying cause. The current experience with the use of aEEG in these patients, while limited, indicates that cerebral function monitoring techniques have a role in treatment of patients with metabolic disorders, especially during metabolic crises. Use of aEEG in this patient group is encouraged if locally available, and collaborative efforts to collect data on aEEG use in patients with metabolic disorders are encouraged to further define the scope and utility of this procedure.