Neurocognitive profile in a case of maple syrup urine disease

Clinical Neuropsychologist

Volumn 24, Issue 4, 2010, Pages 689-700

  Walsh, Karin S ^a   Scott, Megan N ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Case study; Maple Syrup Urine Disease; Neurocognitive

Indexed keywords

ARTICLE; ATTENTION; CASE REPORT; CHILD; COGNITIVE DEFECT; EXECUTIVE FUNCTION; FEMALE; HUMAN; INTELLIGENCE; LEARNING; MAPLE SYRUP URINE DISEASE; NEUROPSYCHOLOGICAL TEST; PHYSIOLOGY; PSYCHOMOTOR PERFORMANCE; VERBAL BEHAVIOR;

ATTENTION; CHILD; COGNITION DISORDERS; EXECUTIVE FUNCTION; FEMALE; HUMANS; INTELLIGENCE; LEARNING; MAPLE SYRUP URINE DISEASE; NEUROPSYCHOLOGICAL TESTS; PSYCHOMOTOR PERFORMANCE; VERBAL BEHAVIOR;

EID: 77952530251     PISSN: 13854046     EISSN: 17444144     Source Type: Journal    
DOI: 10.1080/13854040903527279     Document Type: Article

References (20)

1. Al-Essa, M., & Al-Hussein, K. (1999). 2-[Fluorine-18] Fluoro-2-Deoxy-D-Glucose PET scan of the brain in maple syrup urine disease. Clinical Nuclear Medicine, 24, 612-613.
2. Brismar, J., Aqeel, A., Brismar, G., Coates, R., Gascon, G., & Ozand, P. (1990). Maple syrup urine disease: Findings on CT and MR scans of the brain in 10 infants. American Journal of Neuroradiology, 11, 1219-1228.
3. Chuang, D. T., & Shih, V. E. (2001). Maple syrup urine disease (branched-chain ketoaciduria). In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited diseases (8th ed. pp. 1667-1724). New York: McGraw-Hill.
4. Devlin, A. M., Cross, J. H., Harkness, W., Chong, W. K., Hardking, B., Vargha-Khadem, F., et al. (2003). Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence. Brain, 126, 556-566.
5. Gur, R. C., Packer, I. K., Hungerbuhler, J. P., Reivich, M., Obrist, W. D., Amarnek, W. S., et al. (1980). Differences in the distribution of gray and white matter in the human cerebral hemispheres. Science, 207, 1226-1228.
6. Heindel, N., Kugel, H., Wendel, U., Roth, B., & Benz-Bohm, C. (1995). Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. Pediatric Radiology, 25, 296-299.
7. Hilliges, C., Awiszus, D., & Wendel, U. (1993). Intellectual performance of children with maple syrup urine disease. European Journal of Pediatrics, 132, 144-147. (Pubitemid 23035735)
8. Hoffmann, B., Helbling, C., Schadewaldt, P., & Wendel, U. (2006). Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatric Research, 59, 17-20.
9. Kaplan, P., Mazur, A., Field, M., Berlin, J. A., Berry, G. T., Heidenreich, R., et al. (1991). Intellectual outcome in children with maple syrup urine disease. The Journal of Pediatrics, 119, 46-50.
10. Kasinski, A., Doering, C. B., & Danner, D. J. (2004). Leucine toxicity in a neuronal cell model with inhibited branched chain amino acid catabolism. Molecular Brain Research, 122, 180-187.
11. Kirkwood, M. W., Weiler, M. D., Bernstein, J. H., Forbes, P. W., & Waber, D. P. (2001). Sources of poor performance on the Rey-Osterreith Complex Figure Test among children with learning difficulties: A dynamic approach. The Clinical Neuropsychologist, 15, 345-356.
12. Mackenzie, D. Y., & Woolfe, L. I. (1959). ''Maple Syrup Urine Disease'' An inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency. British Medical Journal, 10, 90-91.
13. Marshall, L., & diGeorge, A. (1981). Maple syrup urine disease in the Old Order Mennonites. American Journal of Human Genetics Supplement, 33, 139A.
14. Mello, C. F., Feska, L., Brusque, A. M., Wannmacher, C. M. D., & Wajner, M. (1999). Chronic early leucine administration induces behavioral deficits in rats. Life Sciences, 65, 747-755.
15. Meyers, J. E., & Meyers, K. R. (1996). Rey Complex Figure Test and Recognition Trial Professional Manual. Odessa, FL: Psychological Assessment Resources, Inc.
16. Nord, A., van Doorninck, W. J., & Greene, C. (1991). Developmental profile of patients with maple syrup urine disease. Journal of Inherited Metabolic Disease, 14, 881-889.
17. Pulsifer, M. B., Brandt, J., Salorio, C. F., Vining, E. P., Carson, B. S., & Freeman, J. M. (2004). The cognitive outcome of hemispherectomy in 71 children. Epilepsia, 45, 243-251.
18. Uziel, G., Savoiardo, M., & Nardocci, N. (1998). CT and MRI in maple syrup urine disease. Neurology, 38, 486-488.
19. Vasques, V. C., de Boer, M. A., Diligenti, F., Brinco, F., Mallmann, F., Mello, C. F., et al. (2004). Intrahippocampal administration of the--keto acids accumulating in maple syrup urine disease provokes learning deficits in rats. Pharmacology, Biochemistry, and Behavior, 77, 183-190.
20. Waber, D. P., & Holmes, J. M. (1986). Assessing children's memory productions of the Rey-Osterreith Complex Figure. Journal of Clinical and Experimental Neuropsychology, 8, 563-580.