Comb-like EEG pattern in maple syrup urine disease: a case report

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder with neonatal-onset feeding difficulties, movement disorder, encephalopathy and seizures. If not treated in a timely manner, fatal progressive neurological deterioration and respiratory failure ensue [1,2]. This serious condition is caused by various degrees of deficiency in the branched-chain alpha-ketoacid dehydrogenase leading to the accumulation of the branched-chain amino acids, leucine, isoleucine, and valine and their toxic by-products in the brain.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Tags: Clinical letter Source Type: research