Neurocognitive Profile in a Case of Maple Syrup Urine Disease

Abstract

Maple Syrup Urine Disease (MSUD) is a metabolic disease with associated enzyme deficiency and an inability to break down amino acids. Neurotoxic levels can occur resulting in neurological sequelae. Information regarding cognitive functions has suggested greater verbal than visuospatial abilities. Specific neuropsychological functions have not been studied. The objective of this study is to examine the neuropsychological profile in a case of MSUD. We present a case study of a 7-year-old female who has a history of late diagnosis (7 days of age) and poor metabolic control. Consistent with existing literature, a profile of stronger verbal reasoning and memory skills compared with visual-perceptual and nonverbal memory was revealed. Additional weaknesses were demonstrated with attention, emerging executive functions, and fine motor control. The results suggest that while previously described nonverbal reasoning and visuospatial impairments are present, there is likely a more complex pattern of neuropsychological impairments in children with MSUD, especially those with poor metabolic control.