Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

Journal of Clinical Investigation

Volumn 123, Issue 4, 2013, Pages 1809-1820

  Muelly, Emilie R ^a   Moore, Gregory J ^a,b   Bunce, Scott C ^a   Mack, Julie ^a   Bigler, Don C ^a,c   Morton, D Holmes ^d,e,f   Strauss, Kevin A ^d,e,f  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b GEISINGER HEALTH SYSTEM   (United States)

^c AREVA NP INC   (United States)

^d CLINIC FOR SPECIAL CHILDREN   (United States)

^e FRANKLIN AND MARSHALL COLLEGE   (United States)

^f LANCASTER GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; GLUTAMIC ACID; INOSITOL; N ACETYLASPARTIC ACID;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ANXIETY DISORDER; ARTICLE; ARTIFICIAL NEURAL NETWORK; ATTENTION; ATTENTION DEFICIT DISORDER; BRAIN METABOLISM; BRAIN REGION; CHILD; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DEPRESSION; DIET THERAPY; FEMALE; HIGH RISK PATIENT; HUMAN; LIVER TRANSPLANTATION; LONGITUDINAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; MENTAL HEALTH CARE; MOOD; NEUROCHEMISTRY; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD;

ADOLESCENT; ADULT; AFFECT; ANXIETY; ASPARTIC ACID; ATTENTION; BRAIN; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CREATINE; DEPRESSION; FEMALE; GLUTAMIC ACID; HUMANS; IMPULSIVE BEHAVIOR; LIVER TRANSPLANTATION; MALE; MAPLE SYRUP URINE DISEASE; PREVALENCE; PSYCHOMOTOR AGITATION; RISK; YOUNG ADULT;

EID: 84875855491     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI67217     Document Type: Article

References (52)

1. Strauss KA, Puffenberger EG, Morton DH. Maple syrup urine disease. In: Pagon R, Bird T, Dolan C, Stephens, K, Adam, M eds. GeneReviews. Seattle, Washington, USA: University of Washington; 2006.
2. Strauss KA, et al. Classical maple syrup urine disease and brain development: Principles of management and formula design. Mol Genet Metab. 2010; 99(4):333-345.
3. Strauss KA, et al. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant. 2006;6(3):557-564.
4. Shellmer DA, et al. Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series. Pediatr Transplant. 2011; 15(1):58-64.
5. Mazariegos GV, et al. Liver transplantation for classical maple syrup urine disease: Long-term followup in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr. 2012; 160(1):116-121.e1.
6. Hutson SM, et al. Role of branched-chain aminotransferase isoenzymes and gabapentin in neurotransmitter metabolism. J Neurochem. 1998;71(2):863-874.
7. Hutson SM, Lieth E, LaNoue KF. Function of leucine in excitatory neurotransmitter metabolism in the central nervous system. J Nutr. 2001;131(3):846S-850S.
8. Dodd PR, et al. Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves. J Neurochem. 1992; 59(2):582-590.
9. Zinnanti WJ, et al. Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Brain. 2009;132(pt 4):903-918.
10. Prensky AL, Moser HW. Brain lipids, proteolipids, and free amino acids in maple syrup urine disease. J Neurochem. 1966;13(9):863-874.
11. Felber SR, Sperl W, Chemelli A, Murr C, Wendel U. Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Ann Neurol. 1993; 33(4):396-401.
12. Jan W, et al. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology. 2003; 45(6):393-399.
13. Sener RN. Maple syrup urine disease: Diffusion MRI, and proton MR spectroscopy findings. Comput Med Imaging Graph. 2007;31(2):106-110.
14. Righini A, Ramenghi LA, Parini R, Triulzi F, Mosca F. Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: Evidence of intramyelinic and vasogenic-interstitial edema. J Neuroimaging. 2003;13(2):162-165.
15. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of maple syrup disease: A study of 36 patients. Pediatrics. 2002;109(6):999-1008.
16. Berry GT, et al. Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. N Engl J Med. 1991;324(3):175-179.
17. Kaplan P, et al. Intellectual outcome in children with maple syrup urine disease. J Pediatr. 1991; 119(1 pt 1):46-50.
18. Zielke HR, Zielke CL, Baab PJ, Collins RM. Large neutral amino acids auto exchange when infused by microdialysis into the rat brain: Implication for maple syrup urine disease and phenylketonuria. Neurochem Int. 2002;40(4):347-354.
19. Fernstrom JD. Large neutral amino acids: Dietary effects on brain neurochemistry and function [published online ahead of print June 8, 2012]. Amino Acids. doi:10.1007/s00726.012.1330-y.
20. Zielke HR, et al. Effect of alpha-ketoisocaproate and leucine on the in vivo oxidation of glutamate and glutamine in the rat brain. Neurochem Res. 1997; 22(9):1159-1164.
21. Yudkoff M, et al. Interrelationships of leucine and glutamate metabolism in cultured astrocytes. J Neurochem. 1994;62(3):1192-1202.
22. Yudkoff M. Brain metabolism of branched-chain amino acids. Glia. 1997;21(1):92-98.
23. Clark JB, Land JM. Differential effects of 2-oxo acids on pyruvate utilization and fatty acid synthesis in rat brain. Biochem J. 1974;140(1):25-29.
24. Dreyfus PM, Prensky AL. Further observations on the biochemical lesion in maple syrup urine disease. Nature. 1967;214(5085):276.
25. Jackson RH, Singer TP. Inactivation of the 2-ketoglutarate and pyruvate dehydrogenase complexes of beef heart by branched chain keto acids. J Biol Chem. 1983;258(3):1857-1865.
26. Wajner A, et al. Synaptic plasma membrane Na(+), K(+)-ATPase activity is significantly reduced by the alpha-keto acids accumulating in maple syrup urine disease in rat cerebral cortex. Metab Brain Dis. 2007; 22(1):77-88.
27. Yudkoff M, et al. Astrocyte leucine metabolism: Significance of branched-chain amino acid transamination. J Neurochem. 1996;66(1):378-385.
28. Kamei A, Takashima S, Chan F, Becker LE. Abnormal dendritic development in maple syrup urine disease. Pediatr Neurol. 1992;8(2):145-147.
29. Schönberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab. 2004;82(1):69-75.
30. Möller HE, Weglage J, Wiedermann D, Ullrich K. Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria. J Cereb Blood Flow Metab. 1998;18(11):1184-1191.
31. Koch R, Moats R, Guttler F, Guldberg P, Nelson M. Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics. 2000; 106(5):1093-1096.
32. Gropman AL, et al. 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. Mol Genet Metab. 2008;94(1):52-60.
33. Govindaraju V, Young K, Maudsley AA. Proton NMR chemical shifts and coupling constants for brain metabolites. NMR Biomed. 2000;13(3):129-153.
34. McRae K, et al. The neural bases of distraction and reappraisal. J Cogn Neurosci. 2010;22(2):248-262.
35. Cohen J. A power primer. Psychol Bull. 1992; 112(1):155-159.
36. Paloyelis Y, Mehta MA, Kuntsi J, Asherson P. Functional MRI in ADHD: A systematic literature review. Expert Rev Neurother. 2007;7(10):1337-1356.
37. Yang P, Wu M-T, Dung S-S, Ko C-W. Short-TE pro-ton magnetic resonance spectroscopy investigation in adolescents with attention-deficit hyperactivity disorder. Psychiatry Res. 2010;181(3):199-203.
38. Perlov E, et al. Reduced cingulate glutamate/glutamine-to-creatine ratios in adult patients with attention deficit/hyperactivity disorder-a magnet resonance spectroscopy study. J Psychiatr Res. 2007; 41(11):934-941.
39. Fisher CR, et al. Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branchedchain alpha-keto acid dehydrogenase complex. J Clin Invest. 1991;88(3):1034-1037.
40. Bottomley PA. Spatial localization in NMR spectroscopy in vivo. Ann N Y Acad Sci. 1987;508:333-348.
41. Cavalleri F, Berardi A, Burlina AB, Ferrari F, Mavilla L. Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Neuroradiology. 2002;44(6):499-502.
42. Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med. 1993;30(6):672-679.
43. Weber-Fahr W, et al. A fully automated method for tissue segmentation and CSF-correction of proton MRSI metabolites corroborates abnormal hippocampal NAA in schizophrenia. Neuroimage. 2002;16(1):49-60.
44. Clements GR. An abbreviated form of the Wechsler Intelligence Scale for Children. J Consult Psychol. 1965;29:92.
45. First MB, Spitzer RL, Gibbon M, Williams JBW. Structured clinical interview for DSM-IV-TR Axis I Disorders, Research Version, Non-Patient Edition. (SCID-I/NP). New York, New York, USA: Biometrics Research, New York State Psychiatric Institute; 2002.
46. Matzner F, Silva R, Silvan M, Chowdhury M, Nastasi L. Preliminary Test-retest Reliability of the KID-SCID. Scientific Proceedings, American Psychiatric Association Meeting. Chicago, Illinois, USA. 1997.
47. Beck AT, Ward CH, Mendelson M, Mock J, Erbaugh J. An inventory for measuring depression. Arch Gen Psychiatry. 1961;4:561-571.
48. Beck A, Steer R. Manual for the Beck Anxiety Inventory. San Antonio, Texas, USA: The Psychological Coorporation Harchourt Brace & Company; 1993.
49. Beck J, Beck A, Jolly J. Beck Youth Inventories of Emotional and Social Impairment. San Antonio, Texas, USA: The Psychological Coorporation; 2001.
50. Gillis MM, Haaga DAF, Ford GT. Normative values for the Beck Anxiety Inventory, Fear Questionnaire, Penn State Worry Questionnaire, and social phobia and anxiety inventory. Psychol Assess. 1995;7(4):450-455.
51. Seggar LB, Lambert MJ, Hansen NB. Assessing clinical significance: Application to the beck depression inventory. Behavior Therapy. 2002;33(2):253-269.
52. Conners CK. Rating scales in attention-deficit/hyperactivity disorder: Use in assessment and treatment monitoring. J Clin Psychiatry. 1998;59(suppl 7):24-30.