A case study of maple syrup urine disease, dietary treatment and neuropsychological performance

Eugene K. Emory, Ronald T. Brown, Tammy Savoie, Sandra Sexson

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease (MSUD) in an 18-year-old male. A review of MSUD literature indicates that infants rarely survive the disorder, and those who do manifest profound neurological abnormality and retardation. A diet which restricts amino acids is necessary in treating the disease. The study examines a rare case of an adolescent with MSUD whose history of aggression and impulsivity was linked to metabolic instability. Hospitalization was required following an episode of disorientation, social withdrawal, and severe cognitive impairment. Selected tests of neuropsychological and cognitive functioning, administered before dietary treatment and immediately following metabolic stabilization and at 5-week follow-up, indicated considerable clinical improvement. Data from this investigation support the use of psychological tests to evaluate cognitive and neuropsychological deficits that vary with metabolic changes associated with MSUD. This case study also emphasizes the importance of cognitive and behavioral monitoring of metabolic changes in MSUD patients.

Original languageEnglish (US)
Pages (from-to)60-63
Number of pages4
JournalNeuropsychiatry, Neuropsychology and Behavioral Neurology
Issue number1
StatePublished - Jan 1992
Externally publishedYes


  • Diet
  • Maple syrup urine disease
  • Neuropsychological

ASJC Scopus subject areas

  • Psychology(all)
  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health


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