DOI: 10.1373/clinchem.2010.144899


A 9-month-old boy with a history of seizures underwent a neurologic and biochemical-genetic evaluation. The brain MRI results were compatible with a diagnosis of Leigh disease, also known as subacute necrotizing encephalomyelopathy, a rare neurometabolic disorder that affects the central nervous system. The patient had been prescribed several antiepileptic medications, including levetiracetam, lamotrigine, phenobarbital, vigabatrin, and topiramate. Metabolic screening for free amino acids was performed on the child's urine, with concentrations quantified with an automated amino acid analyzer (Hitachi L-8800).