Abstract
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 language | English (US) |
|---|---|
| Pages (from-to) | 60-63 |
| Number of pages | 4 |
| Journal | Neuropsychiatry, Neuropsychology and Behavioral Neurology |
| Volume | 5 |
| Issue number | 1 |
| State | Published - Jan 1992 |
| Externally published | Yes |
Keywords
- Diet
- Maple syrup urine disease
- Neuropsychological
ASJC Scopus subject areas
- Psychology(all)
- Neurology
- Clinical Neurology
- Psychiatry and Mental health
