The pediatric neurotransmitter disorders

Journal of Child Neurology

Volumn 22, Issue 5, 2007, Pages 606-616

  Pearl, Phillip L ^a   Taylor, Jacob L ^a   Trzcinski, Stacey ^a   Sokohl, Alex ^a  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

Author keywords

aminobutryric acid; Dopamine; Neurotransmitters

Indexed keywords

4 AMINOBUTYRIC ACID; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; AMINO ACID DECARBOXYLASE; AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; ANTICONVULSIVE AGENT; AROMATIC LEVO AMINO ACID DECARBOXYLASE; BUSPIRONE; CARBIDOPA PLUS LEVODOPA; DEXTROMETHORPHAN; DOPAMINE; DOPAMINE RECEPTOR STIMULATING AGENT; GLUTAMATE DECARBOXYLASE; GLYCINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; MELATONIN; MONOAMINE; MONOAMINE OXIDASE INHIBITOR; NEUROTRANSMITTER; PHENYLALANINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; SELEGILINE; SEPIAPTERIN REDUCTASE; SEROTONIN; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; TETRAHYDROBIOPTERIN; TRIHEXYPHENIDYL; TYROSINE 3 MONOOXYGENASE; UNINDEXED DRUG;

4 AMINOBUTYRATE AMINOTRANSFERASE DEFICIENCY; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; AMINE OXIDASE (FLAVIN CONTAINING) DEFICIENCY; AMINO ACID BLOOD LEVEL; AROMATIC LEVO AMINO ACID DECARBOXYLASE DEFICIENCY; BRAIN DISEASE; CEREBROSPINAL FLUID ANALYSIS; CHILD; CHILDHOOD DISEASE; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; DISORDERS OF GLYCINE METABOLISM; DISORDERS OF MONOAMINE METABOLISM; DOPAMINE BETA MONOOXYGENASE DEFICIENCY; DRUG DOSE TITRATION; DYSKINESIA; ENZYME ACTIVITY; EPILEPSY; GENOTYPE PHENOTYPE CORRELATION; GLUTAMATE DECARBOXYLASE DEFICIENCY; HOMOCARNOSINOSIS; HUMAN; HYPERPHENYLALANINEMIA; LOW DRUG DOSE; MENTAL DISEASE; METABOLIC DISORDER; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROTRANSMITTER RELEASE; NONHUMAN; PRIORITY JOURNAL; REVIEW; SEGAWA DISEASE; SEIZURE; SEPIAPTERIN REDUCTASE DEFICIENCY; SINGLE DRUG DOSE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TETRAHYDROBIOPTERIN DEFICIENCY; TYROSINE 3 MONOOXYGENASE DEFICIENCY;

BRAIN DISEASES, METABOLIC, INBORN; HUMANS; METABOLIC NETWORKS AND PATHWAYS; MODELS, BIOLOGICAL; NERVOUS SYSTEM DISEASES; NEUROTRANSMITTER AGENTS; PEDIATRICS;

EID: 34250778935     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807302619     Document Type: Review

References (71)

1. Swoboda KJ, Hyland K. Diagnosis and treatment of neurotransmitter-related Neurol Clin. 2002; 20: 1143-1161.
2. Dionisi-Vici C., Hoffmann GF, Leuzzi V., et al. Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy. J Pediatr. 2000; 136: 560-562.
3. Swoboda KJ, Saul JP, McKenna CE, et al. Aromatic L-amino acid decarboxylase deficiency: Overview of clinical features and outcomes. Ann Neurol. 2003; 54 (suppl 6): S49-S55
4. Pons R., Ford B., Chriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: Clinical features, treatment and prognosis. Neurology. 2004; 62: 1058-1065.
5. Fiumara AC, Brautigam C., Hyland K., et al. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies. Neuropediatrics. 2002; 33: 203-208.
6. Blau N. BIODEF Database. Available at: http://www.bh4.org/ BH4DatabasesBiodef.asp. Accessed September 25, 2006.
7. Blau N., Thony B., Cotton Rgh, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001: 1725-1776.
8. Segawa M., Ohmi K, Itoh S, et al. Childhood basal ganglia disease with remarkable response to L-dopa: Hereditary basal ganglia disease with marked diurnal fluctuation [in Japanese]. Shinryo (Tokyo). 1971;24: 667-672
9. Nemeth AH The genetics of primary dystonias and related disorders. Brain. 2002; 125: 695-721.
10. Segawa M., Nomura Y., Nichiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 2003; 54 (suppl 5): S32-S45.
11. Tassin J., Durr A., Bonnet AM, et al. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations? Brain. 2000; 123: 1112-1121.
12. Bonafe L., Thony B., Penzien JM, et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001; 69: 269-277.
13. Elzaouk L., Osmani H., Leimbacher W., et al. Sepiapterin reductase deficiency: Molecular analysis in a new case presenting with neurotransmitter deficiency without hyperphenylalaninemia. In: Milstein S, Kapatos G, Shane B, Levine RA, eds. Chemistry and Biology of Pteridines and Folates. Boston: Kluwer Academic; 2002: 277-285.
14. Yang S., Lee YJ, Kim JM, et al. A murine model for human sepiapterin-reductase deficiency. Am J Hum Genet. 2006; 78: 575-587.
15. Brunner HG, Nelen M., Breakefield XO, et al. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science. 1993; 262: 578-580.
16. Sims KB, de la Chapelle A., Norio R., et al. Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron. 1989; 2: 1069-1076.
17. Robertson D., Haile V., Perry SE, et al. Dopamine beta-hydroxylase deficiency: A genetic disorder of cardiovascular regulation. Hypertension. 1991; 18: 1-8.
18. Man in't Veld AJ, Boomsma F., Moleman P., et al. Congenital dopamine beta-hydroxylase deficiency: A novel orthostatic syndrome. Lancet. 1987; 1: 183-188.
19. Thomas SA, Matsumoto AM, Palmiter RD Noradrenaline is essential for mouse fetal development. Nature. 1995; 374: 643-646.
20. Alaniz RC, Thomas SA, Perez-Melgosa M., et al. Dopamine beta-hydroxylase deficiency impairs cellular immunity. Proc Natl Acad Sci USA. 1999; 96: 2274-2278.
21. Szot P., Weinshenker D., White SS, et al. Norepinephrine-deficient mice have increased susceptibility to seizure-inducing stimuli. J Neurosci. 1999; 19: 10985-10992.
22. Lake CR, Ziegler MG, Murphy DL Increased norepinephrine levels and decreased dopamine beta-hydroxylase activity in primary autism. Arch Gen Psych. 1977; 34: 553-556.
23. Robinson PD, Schutz CK, Macciardi F., White BN, Holden JJ Genetically determined low maternal serum dopamine beta-hydroxylase levels and the etiology of autism spectrum disorders. Am J Med Genet. 2001; 100: 30-36.
24. Novotny EJ, Fulbright RK, Pearl PL, et al. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol. 2003; 54 (suppl 6): S25-S31
25. Dinopoulos A., Kure S., Chuck G., et al. Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults. Neurology. 2005; 64: 1255-1257.
26. Kure S., Narisawa K., Tada K. Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts. J Pediatr. 1992; 120: 95-98.
27. Chien YH, Hsu CC, Huang A., et al. Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan. J Child Neurol. 2004; 19: 39-42.
28. Korman SH, Boneh A., Ichinohe A., et al. Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. Ann Neurol. 2004; 56: 139-143.
29. Tekgul H., Serdaroglu G., Karapinar B., et al. Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. J Child Neurol. 2006; 21: 82-84.
30. Asada H., Kawamura Y., Maruyama K., et al. Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid Proc Natl Acad Sci USA. 1997; 94: 6496-6499.
31. Kanno K., Suzuki Y., Yamada A., et al. Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population. Am J Med Genet A. 2004; 127: 11-16.
32. Hyland K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol. 2003; 54 (suppl 6): S13-S17.
33. Jacken J., Casaer P., Decock P., et al. Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics. 1984; 15: 165.
34. Jakobs C., Bojasch M., Moench E., et al. Urinary excretion of γhydroxybutyric acid in a patient with neurological abnormalities. Clin Chim Acta. 1981; 111: 169.
35. Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003; 60: 1413-1417.
36. Gibson KM, Gupta M., Pearl PL, et al. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry. 2003; 54: 763-768.
37. Pearl PL, Capp PK, Novotny EJ, Gibson KM Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005; 38: 1051-1058.
38. Pearl P., Acosta MT, Wallis DD, et al. Dyskinetic features of succinate semialdehyde dehydrogenase deficiency, a GABA degradative defect. In: Fernandez-Alvarez E, Arzimanoglou A, Tolosa E, eds. Paediatric Movement Disorders. Surrey, UK: John Libbey Eurotext; 2005.
39. Pearl PL, Acosta MT, Theodore WH, et al. Human SSADH deficiency: phenotype and treatment strategies. In: Hoffman GF, ed. Diseases of Neurotransmission: From Bench to Bed. Heilbronn, Germany: SPS Publications; 2006: 187-198.
40. Philippe A., Deron J., Genevieve D., et al. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). Dev Med Child Neurol. 2004; 46: 564-568.
41. Gibson KM, Jansen IV, Sweetman L., et al. Heterogeneity of clinical manifestations in 4-hydroxybutyric aciduria. Ann Neurol. 1986; 20: 141.
42. Gibson KM, Aramaki S., Sweetman L., et al. Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom. 1990; 19: 89.
43. Brown GK, Cromby CH, Manning NJ, Pollitt RJ Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: Evidence of -oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial-oxidation. J Inherit Metab Dis. 1987; 10: 367.
44. Trettel F., Malaspina P., Jodice C., et al. Human succinic semialdehyde dehydrogenase: Molecular cloning and chromosomal localization. Adv Exp Med Biol. 1997; 414: 253.
45. Akaboshi S., Hogema BM, Novelletto A., et al. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat. 2003; 22: 442-450.
46. Dervent A., Gibson KM, Pearl PL, et al. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clin Neurophysiol. 2004; 115: 1417-1422.
47. Pearl PL, Gibson KM Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol. 2004; 17: 107-113.
48. Ziyeh S., Berlis A., Korinthenberg R., et al. Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency. Pediatr Rediol. 2002; 32: 598-600.
49. Ethofer T., Seeger U., Klose U., et al. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. Neurology. 2004; 23: 1016-1018.
50. Hogema BM, Gupta M., Senephansiri H., et al. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet. 2001; 29: 212-216.
51. Gupta M., Hogema BM, Grompe M., et al. Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol. 2003; 54 (suppl 6): S81-S90.
52. Gibson KM, Jakobs C., Pearl PL, Snead OC Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life. 2005; 57: 639-644.
53. Gupta M., Greven R., Jansen EE, et al. Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria). J Pharmacol Exp Ther. 2002; 302: 180-187.
54. Wu Y., Buzzi A., Frantseva M. Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol. 2006; 59: 42-52.
55. Buzzi A., Wu Y., Frantseva MV Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res. 2006; 1090: 15-22.
56. Chan KF, Burnham WM, Jia Z. GABAB receptor antagonism abolishes the learning impairments in rats with chronic atypical absence seizures. Eur J Pharmacol. 2006; 10: 64-72.
57. Ergezinger K., Jeschke R., Frauendienst-Egger G., et al. Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency. Ann Neurol. 2003; 54: 686-689.
58. Pearl PL, Gropman A. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004; 55: 599.
59. Gibson KM, Gupta M., Pearl PL, et al. Psychosis as a cardinal clinical feature of succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psych. 2003; 54: 763-768.
60. Shinka T., Ohfu M., Hirose S., Kuhara T. Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci. 2003; 792: 99-106.
61. Gupta M., Jansen EE, Senephansiri H., et al. Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. Mol Ther. 2004; 9: 527-539.
62. Sjaastad O., Berstad J., Ghesdahl P., Gjessing L. Homocarnosinosis: A familial disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation. Acta Neurol Scan. 1976; 53: 275-290.
63. Kramarenko GG, Markova ED, Ivanova-Smolenskaya IA, Boldyrev AA Peculiarities of carnosine metabolism in a patient with pronounced homocarnosinemia. Bull Exp Biol Med. 2001; 132: 996-999.
64. Surtees R., Mills P., Clayton P.: Inborn errors effecting vitamin B6 metabolism. Future Neurol. 2006; 1: 615-620.
65. Battaglioli G., Rosen DR, Gospe SM Jr, et al. Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. Neurology. 2000; 55: 309-311.
66. Baxter P. Pyridoxine-dependent seizures: A clinical and biochemical conundrum. Biochim Biophys Acta. 2003; 1647: 36-41.
67. Cormier-Daire V., Dagoneau N., Nabbout R., et al. A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet. 2000; 67: 991-993.
68. Bennett CL, Huynh HM, Chance PF, et al. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics. 2005; 6: 143-149.
69. Plecko B., Stockler-Ipsiroglu S., Paschke E., et al. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol. 2000; 48: 121-125.
70. Mills PB, Struys E., Jakobs C., et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006; 12: 307-309.
71. Mills PB, Surtees RA, Champion MP, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet. 2005; 14: 1077-1086.