References
1. Dudesek A, Roschinger W, Muntau AC, Seidel J, Leupold D, Thony B, et al. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Europ J Pediat 2001;160:267-76.
2. Niederwieser A, Shintaku H, Leimbacher W, Curtius H-C, Hyanek J, Zeman J, et al. Peripheral tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. Europ J Pediat 1987;146:228-32.
3. Woody RC, Brewster MA, Glasier C. Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. Neurology 1989;39:673-5.
4. Larnaout A, Belal S, Miladi N, Kaabachi N, Mebazza A, Dhondt JL, et al. Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients. Neuropediatrics 1998;29:322-3.
5. Milstien S, Kaufman S, Summer GK. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosed by measurement of oxidized and reduced pterins in urine. Pediatrics 1980;65:806-10.
6. Adler C, Ghisla S, Rebrin I, Heizmann CW, Blau N, Curtius H-C. Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin. J Inherit Metab Dis 1992;15:405-8.
7. Blau N, Dhondt JL, Guibaud P, Kuster T, Curtius H-C. New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins. [letter] Europ J Pediat 1988;148:176.
8. Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD. Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet 1993;53:768-74.
9. Thony B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, et al. Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). Am J Hum Genet 1998;62:1302-11.
10. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-33.
11. Harwood G, Hierons R, Fletcher NA, Marsden CD. Lessons from a remarkable family with dopa-responsive dystonia. J Neurol Neurosurg Psychiat 1994;57:460-3.
12. Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, et al. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann Neurol 1998;43:634-9.
13. Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M, et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology 1998;50:1015-20.
14. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-42.
15. Hyland K, Surtees RA, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992;42:1980-8.
16. Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K. Aromatic L-Amino Acid Decarboxylase Deficiency: Overview of Clinical Features and Outcomes. Ann Neurol 2003; 54(suppl 6):S49-S55.
17. Abeling NG, Brautigam C, Hoffmann GF, Barth PG, Weers RA, Jaeken J, et al. Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency. J Inherit Metab Dis 2000;23:325-8.
18. Abeling NG, van Gennip AH, Barth PG, van Cruchten A, Westra M, Wijburg FA. Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. J Inherit Metab Dis 1998;21:240-2.
19. Swoboda KJ, Hyland K, Goldstein DS, Kuban KC, Arnold LA, Holmes CS, et al. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology 1999;53:1205-11.
20. Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004 Apr 13;62(7):1058-65.
21. Bonafe L, Blau N, Burlina AP, Romstad A, Guttler F, Burlina AB. Treatable neurotransmitter deficiency in mild phenylketonuria. Neurology 2001;57:908-11.
22. Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001;74:172-85.
23. Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001;69:269-77.
24. Bodeau-Pean S, Ravassard P, Neuner-Jehle M, Faucheux B, Mallet J, Dumas S. A human tyrosine hydroxylase isoform associated with progressive supranuclear palsy shows altered enzymatic activity. J Biol Chem 1999;274:3469-75.
25. De Lonlay P, Nassogne MC, van Gennip AH, van Cruchten AC, Billatte de Villemeur T, Cretz M, et al. Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. J Inherit Metab Dis 2000;23:819-25.
26. de Rijk-Van Andel JF, Gabreels FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, et al. L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. Neurology 2000;55:1926-8.
27. Brautigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999;45:2073-8.
28. Dionisi-Vici C, Hoffmann GF, Leuzzi V, Hoffken H, Brautigam C, Rizzo C, et al. Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr 2000;136:560-2.
29. Haussler M, Hoffmann GF, Wevers RA. L-dopa and selegiline for tyrosine hydroxylase deficiency. J Pediatr 2001;138:451.
30. Furukawa Y, Graf WD, Wong H, Shimadzu M, Kish SJ. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001;56:260-3.
31. Raemaekers VT, Senderek J, Hausler M, et al. A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa. Mol Genet Metab 2001;73:179-87.
32. Robertson D, Goldberg MR, Onrot J, Hollister AS, Wiley R, Thompson Jr. JG, et al. Isolated failure of autonomic noradrenergic neurotransmission: evidence for impaired beta-hydroxylation of dopamine. New Engl J Med 1986;314:1494-7.
33. Robertson D, Haile V, Perry SE, Robertson RM, Phillips III JA, Biaggioni I. Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. Hypertension 1991;18:1-8.
34. Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, et al. Screen for MAOA mutations in target human groups. Am J Med Genet 1999;88:25-8.
35. Brunner HG, Nelen MR, van Zandvoort P, Abeling NGGM, van Gennip AH, Wolters EC, et al. X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet 1993;52:1032-9.
36. Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 1993;262:578-80.
37. Deckert J, Catalano M, Syagailo YV, Bosi M, Okladnova O, Di Bella D, et al. Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder. Hum Mol Genet 1999;8:621-4.
38. Preisig M, Bellivier F, Fenton BT, et al. An association between bipolar disorder and monoamine A gene polymorphisms: results of a multicenter study. Am J Psychiatry 2000;157:948-55.
39. Lenders JWM, Eisenhofer G, Abeling NGGM, Berger W, Murphy DL, Konings CH, et al. Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest 1996;97:1010-9.
40. Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, et al. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. Am J Med Genet 1992;42:127-34.
41. Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 1998;29:14-22.
42. Hogema BM, Gupta M, Senephansiri H, Burlingame TG, Taylor M, Jakobs C, et al. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet 2001;29:212-6.
43. Shiang R, Ryan SG, Zhu Y-Z, Hahn AF, O'Connell P, Wasmuth JJ. Point mutations in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993;5:351-7.
44. Dubowitz LM, Bouza H, Hird MF, Jaeken J. Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet 1992;340:80-1.
45. Hamosh A, Johnston MV. Nonketotic hyperglycinemia. New York: McGraw-Hill; 2001. p. 2065-78.
46. Applegarth DA, Toone JR. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab 2001;74:139-46.
47. Christodoulou J, Kure S, Hayasaka K, Clarke JT. Atypical nonketotic hyperglycinemia confirmed by assay of the glycine in lymphoblasts. J Pediatr 1993;123:100-2.
48. Boneh A, Degani Y, Harari M. Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia. Pediatr Neurol 1996;15:137-41.
49. Hamosh A, Maher JF, Bellus GA, Rasmussen SA, Johnston MV. Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia. J Pediatr 1998;132:709-13.
50. van der Knaap MS, Barth PG, Gabreels FJM, Franzoni E, Begeer JH, Stroink H, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-55.
51. van der Knaap MS, Wevers RA, Kure S, Gabreels FJ, Verhoeven NM, van Raaij-Selten B, et al. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol 1999;14:728-31.
52. Leegwater PAJ, Vermeulen G, Konst AAM, Naidu S, Mulders J, Visser A, et al. Subunits of the translation initiation factor eiF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001;29:383-8.
53. Jackson AH, Applegarth DA, Toone JR, Kure S, Levy HL. Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio. J Child Neurol 1999;14:464-7.