Neurochemistry and defects of biogenic amine neurotransmitter metabolism

Journal of Inherited Metabolic Disease

Volumn 22, Issue 4, 1999, Pages 353-363

  Hyland, K ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; ADRENALIN; BIOGENIC AMINE; CATECHOLAMINE DERIVATIVE; DIHYDROPTERIDINE REDUCTASE; DOPAMINE; DOPAMINE TRANSPORTER; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; LEVODOPA; NEOPTERIN; NEUROTRANSMITTER; NORADRENALIN; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; POSTSYNAPTIC RECEPTOR; PRESYNAPTIC RECEPTOR; SEROTONIN; TETRABENAZINE; TETRAHYDROBIOPTERIN; TRYPTOPHAN HYDROXYLASE; TYROSINE 3 MONOOXYGENASE;

BIOSYNTHESIS; CATABOLISM; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE ASSOCIATION; DOMINANT INHERITANCE; HETEROZYGOTE; HUMAN; HYPERACTIVITY; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; METABOLIC DISORDER; METABOLIC REGULATION; METABOLITE; NERVE CONDUCTION; NEUROCHEMISTRY; NEUROLOGIC DISEASE; NEUROTRANSMITTER RELEASE; NEWBORN SCREENING; NONHUMAN; PHENOTYPE; SEGAWA DISEASE; SIGNAL TRANSDUCTION; STORAGE;

BIOGENIC AMINES; BIOGENIC MONOAMINES; HUMANS; METABOLISM, INBORN ERRORS;

EID: 0033010601     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005587719505     Document Type: Conference Paper

References (55)

1. Amara SG, Kuhar MJ (1993) Neurotransmitter transporters: recent progress. Annu Rev Neurosci 16: 73-93.
2. Bandmann O, Valente EM, Holmans P, et al (1998) Dopa-responsive dystonia: a clinical and molecular study. Ann Neurol 44: 649-656.
3. Bebin EM, Fryburg JS, Trugman JM (1995) Dopa-responsive dystonia (DRD) presenting in the first year of life. Neurology 45 (supplement 4): A184.
4. Bezin L, Nygaard TG, Neville JD, Shen H, Levine RA (1998) Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia. Neurology 50: 1021-1127.
5. Biaggioni I, Robertson D (1987) Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. Lancet 2: 1170-1172.
6. Blau N, Barnes I, Dhondt JL (1996a) International database of tetrahydrobiopterin deficiencies. J Inher Metab Dis 19: 8-14.
7. Blau N, Thony B, Spada M, Ponzone A (1996b) Tetrahydrobiopterin and inherited hyperphenylalaninemias. Turk J Pediatr 38: 19-35.
8. Blau N, Thony B, Renneberg A, Arnold LA, Hyland K (1998) Dihydropteridine reductase deficiency localized to the central nervous system. J Inher Metab Dis 21: 433-434.
9. Blau N, Thony B, Renneberg A, Penzien JM, Hyland K, Hoffmann G (1999). Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. J Inher Metab Dis, 22: 216-220.
10. Brautigam C, Wevers RA, Jansen RJ, et al (1998). Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 44: 1897-1904.
11. Brunner HG, Nelen M, Breakefiald XO, Ropers HH, van Oost BA (1993) Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262: 578-580.
12. Caine SB, Koob GF (1993) Modulation of cocaine self-administration in the rat through D-3 dopamine receptors. Science 260: 1814-1816.
13. Danks DM, Schlesinger P, Firgaira F, et al (1979) Malignant hyperphenylalaninaemia -clinical features, biochemical findings, and experience with administration of biopterins. Pediatr Res 13: 1150-1155.
14. Eyskens FJM, Booij J, Ewvers RA, Nouwen A (1998) A new progressive hereditary dystonia syndrome caused by a deficiency in D2 dopamine receptors. J Inher Metab Dis 21 (supplement 2): 6.
15. Fink JK, Barton N, Cohen W, Lovenberg W, Burns RS, Hallett M (1998) Dystonia with marked diurnal variation associated with biopterin deficiency. Neurology 38: 707-711.
16. Furukawa Y, Kish SJ, Bebin EM, et al (1998) Dystonia with motor delay in compound heterozygotes for GTP cyclohydrolase 1 gene mutations. Ann Neurol 44: 10-16.
17. Gainetdinov RR, Jones SR, Fumagalli F, Wightman RM, Caron MG (1998) Re-evaluation of the role of the dopamine transporter in dopamine system homeostasis. Brain Res Brain Res Rev 26: 148-153.
18. Goldman-Rakic PS (1998) The cortical dopamine system: role in memory and cognition. Adv Pharmacol 42: 707-711.
19. Goldstein DS (1998) Catecholamines in the periphery. Overview. Adv Pharmacol 42: 529-539.
20. Goldstein M, Harada K, Meller E, Schalling M, Hokfelt T (1990) Dopamine autoreceptors. Biochemical, pharmacological, and morphological studies Ann NY Acad Sci 604: 169-175.
21. Grace AA, Gerfen CR, Aston-Jones G (1998) Catecholamines in the central nervous system. Overview. Adv Pharmacol 42: 655-670.
22. Haller J, Makara GB, Kruk MR (1998) Catecholaminergic involvement in the control of aggression: hormones, the peripheral sympathetic, and central noradrenergic systems. Neurosci Biobehav Rev 22: 85-97.
23. Howells DW, Smith I, Leonard JV, Hyland K (1986) Tetrahydrobiopterin in dihydropteridine reductase deficiency. N Engl J Med 314: 520-521.
24. Hyland K (1993) Abnormalities of biogenic amine metabolism. J Inher Metab Dis 16: 676-690.
25. Hyland K, Surtees RAH, Rodeck C, Clayton PT (1992). Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 42: 1980-1988.
26. Hyland K, Fryburg JS, Wilson WG, et al (1997) Oral phenylalanine loading in doparesponsive dystonia: a possible diagnostic test. Neurology 48: 1290-1297.
27. Hyland K, Chang YT, Arnold LA, Ford B, DeVivo DC (1998a) Ballistic movement disorder associated with low cerebrospinal fluid ratio of homovanillic acid to 5-hydroxyindoleacetic acid: a defect in the dopamine transporter? J Inher Metab Dis 21 (supplement 2): 4.
28. Hyland K, Arnold LA, Trugman JM (1998b) Defects of biopterin metabolism and biogenic amine biosynthesis: clinical, diagnostic and therapeutic aspects. Adv Neurol 78: 301-308.
29. Ichinose H, Ohye T, Takahashi E, et al (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genetics 8: 236-242.
30. Jackson DM, Westlind-Danielsson A (1994) Dopamine receptors: molecular biology, biochemistry and behavioural aspects. Pharmacol Ther 64: 291-370.
31. Jacobs BL, Fornal CA (1997) Serotonin and motor activity. Curr Opin Neurobiol 7: 820-825.
32. Kaufman S (1981) Regulatory properties of pterin dependent hydroxylases : variations on a theme. In Usdin E, Weiner N, Youdim MBH, eds. Function and Regulation of Monoamine Enzymes. New York: Macmillan, 165-173.
33. Knappskog PM, Flatmark T, Mallet J, Lüdecke, Bartholomé K (1995) Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 4: 1209-1212.
34. Koob GF (1992) Drugs of abuse: anatomy, pharmacology and function of reward pathways. Trends Pharmacol Sci 13:177-184.
35. Kumer SC, Vrana KE (1996) Intricate regulation of tyrosine hydroxylase activity and gene expression. J Neurochem 67: 443-462.
36. Le Moal M, Simon H (1991) Mesocorticolimbic dopaminergic network: functional and regulatory roles. Physiol Rev 71: 155-234.
37. Lüdecke B, Dworniczak B, Bartholomé K (1995) A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 93: 123-125.
38. Lüdecke B, Knappskog PM, Clayton PT, et al, (1996) Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 5: 1023-1028.
39. Maller A, Hyland K, Milstien S, Biaggioni I, Butler IJ (1997) Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis and treatment of a second family. J Child Neurol 12: 349-354.
40. Man in't Veld AJ, Boomsma F, Moleman P, Schalekamp MADH (1987) Congenital dopamine beta-hydroxylase deficiency. Lancet 1: 183-188.
41. Missale C, Nash SR, Robinson SW, Jaber M, Caron MG (1998) Dopamine receptors: from structure to function. Physiol Rev 78: 189-225.
42. Nygaard TG, Snow BJ, Fahn S, Calne DB (1993) Dopa-responsive dystonia: clinical characteristics and definition. In Segawa M, ed. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation. Carnforth, UK: Parthenon Publishing, 3-19.
43. Pani L, Gessa GL (1997) Evolution of the dopaminergic system and its relationships with the psychopathology of pleasure. Int J Clin Pharmacol Res 17: 55-58.
44. Schuldiner S, Shirvan A, Linial M (1995) Vesicular neurotransmitter transporters: from bacteria to humans. Physiol Rev 75: 369-392.
45. Segawa M, Ohmi K, Itoh S, Aoyama M, Hayakawa H (1971) Childhood basal ganglia disease with remarkable response to L-DOPA, hereditary basal ganglia disease with marked diurnal fluctuation. Shinryo (Tokyo) 24: 667-672.
46. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H (1976) Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 14: 215-233.
47. Stockmeier CA (1997) Neurobiology of serotonin in depression and suicide. Ann NY Acad Sci 836: 220-232.
48. Takahashi H, Levine RA, Galloway MP, Snow BJ, Calne DB, Nygaard TG (1994) Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann Neurol 35: 354-356.
49. Tanaka K, Yoneda M, Nakajima T, Miyatake T, Owada M (1987) Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. Neurology 37: 519-522.
50. Westwood A, Raine DN (1975) Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio. J Med Genet 12: 327-333.
51. Wevers A, deRijk-van Andel, Bräutigan C, et al (1999) A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J Inher Metab Dis 22: 364-373.
52. van den Heuvel LP, Luiten B, Smeitink JA, et al (1998) A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-dopa responsive dystonia (DRD) in the Dutch population. Hum Genet 102: 644-646.
53. van der Kar LD (1991) Neuroendocrine pharmacology of serotonergic (5HT) neurons. Annu Rev Pharmacol Toxicol 31: 289-320.
54. Yildiz O, Smith JR, Purdy RE (1998) Serotonin and vasoconstrictor synergism. Life Sci 62: 1723-1732.
55. Zschocke K, Hoffmann GF, Assmann B, Brautigam C, Hoffken H, Wevers RA (1997) Disturbance of dopaminergic neurotransmission in infantile parkinsonism and neonatal epileptic encephalopathy. J Inher Metab Dis 20 (supplement 1): 2.