Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan

Brain and Development

Volumn 33, Issue 10, 2011, Pages 847-855

  Niu, Dau Ming ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

4 OHBH4; 5 HTTP; 6 pyruvoyl tetrahydropterin synthase; AR; BH4; CR; DHPR; GTP; GTPCH; HPA; Hyperphenylalaninemia; NH2TP; NO; Outcome; PAH; PCD; PHE; PTPS; SR; Tetrahydrobiopterin; Treatment

Indexed keywords

5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; CATECHOLAMINE; FOLINIC ACID; LEVODOPA; NEUROTRANSMITTER; PHENYLALANINE; SEROTONIN; TETRAHYDROBIOPTERIN;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; CLINICAL ASSESSMENT; CLINICAL FEATURE; DIHYDROPTERIDINE REDUCTASE DEFICIENCY; DROWSINESS; DYSKINESIA; EARLY DIAGNOSIS; ENZYME DEFICIENCY; HUMAN; HYPERPHENYLALANINEMIA; HYPERSALIVATION; INTELLIGENCE QUOTIENT; IRRITABILITY; METABOLIC DISORDER; MUSCLE HYPOTONIA; NEUROTRANSMISSION; NEWBORN SCREENING; PHENOTYPE; PHENYLKETONURIA; PTOSIS; REVIEW; SIDE EFFECT; SLURRED SPEECH; TAIWAN; TETRAHYDROBIOPTERIN DEFICIENCY;

BIOPTERIN; FEMALE; HUMANS; MALE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; TAIWAN;

EID: 80755163495     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.07.009     Document Type: Review

References (35)

1. Blau N., Thony B.R., Cotton G.H., Hylan K.D. Disorders of tetrahydrobiopterin and related biogenic amines. The metabolic and molecular bases of inherited disease 2001, 1725-1776. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.).
2. Bartholome K., Byrd D.J., Kaufman S., Milstien S. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Pediatrics 1977, 59:757-761.
3. Cederbaum S.D. Diagnosis and management of " malignant hyperphenylalaninemia" N Engl J Med 1979, 301:441-442.
4. McInnes R.R., Kaufman S., Warsh J.J., Van Loon G.R., Milstein S., Kapatos G., et al. Biopterin synthesis defect. Treatment with l-DOPA and 5-hydroxytryptophan compared with therapy with a tetrahydropterin. J Clin Invest 1984, 73:458-469.
5. Dhondt J.L. Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. J Pediatr 1984, 104:501-508.
6. Blau N, Thony B. BIOMDB: database of mutations causing tetrahydrobiopterin deficiencies; 2005. http://www.bh4.org/BH4_databases_biomdb.asp.
7. Hyland K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol 2003, 54:S13-S17.
8. Dudesek A., Röschinger W., Muntau A.C., Seidel J., Leupold D., Thöny B., et al. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr 2001, 160:267-276.
9. Ponzone A., Blau N., Guardamagna O., Ferrero G.B., Dianzani I., Endres W. Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype. J Inherit Metab Dis 1990, 13:298-300.
10. Spada M., Parrella T., Ponzone R., et al. Monitoring treatment in tetrahydrobiopterin deficiency. Pteridines 1992, 3:13-15.
11. Szeinberg A., Cohen B.E. Malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Adv Clin Enzymol 1987, 5:74-80.
12. Jaggi L., Zurfluh M.R., Schuler A., Ponzone A., Porta F., Fiori L., et al. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab 2008, 93:295-305.
13. Leuzzi V., Carducci C.A., Carducci C.L., Pozzessere S., Burlina A., Cerone R., et al. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet 2010, 77:249-257.
14. Chien Y.H., Chiang S.C., Huang A., Lin J.M., Chiu Y.N., Chou S.P., et al. Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. J Inherit Metab Dis 2001, 24:815-823.
15. Smith I., Lee P. The hyperphenylalaninaemias. Inborn metabolic diseases 2000, 172-184. Springer, Wurzburg. 3rd ed. J. Fernandes, J.M. Saudubray, G. Berghe (Eds.).
16. Niu D.M., Chien Y.H., Chiang C.C., Ho H.C., Hwu W.L., Kao S.M., et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 2010, 33:S295-S305.
17. Liu K.M., Liu T.T., Lee N.C., Cheng L.Y., Hsiao K.J., Niu D.M. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyltetrahydropterin synthase deficiency. Arch Neurol 2008, 65:387-392.
18. Thony B., Auerbach G., Blau N. Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J 2000, 347:1-16.
19. Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis 2009, 32:333-342.
20. Bonafe L., Thony B., Penzien J.M., 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, 69:269-277.
21. Thony B., Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 2006, 27:870-878.
22. Liu T.T., Hsiao K.J. Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. Hum Genet 1996, 98:313-316.
23. Lee N.C., Cheng L.Y., Liu T.T., Hsiao K.J., Chiu P.C., Niu D.M. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. Mol Genet Metab 2006, 87:128-134.
24. Blau N., Bonafé L., Thöny B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001, 74:172-185.
25. Hevel J.M., Stewart J.A., Gross K.L., Ayling J.E. Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?. Mol Genet Metab 2006, 88:38-46.
26. Blaskovics M., Giudici T.A., Blau N. Primapterinuria: a clinical update. Pteridines 1992, 3:33-34.
27. Yanling Y., Qiang G., Zhixiang Z., Chunlan M., Lide W., Xiru W. A clinical investigation of 228 patients with phenylketonuria in mainland China. Southeast Asian J Trop Med Public Health 1999, 30:58-60.
28. Partington M.W. The early symptoms of phenylketonuria. Pediatrics 1961, 27:465-473.
29. Leuzzi V., Trasimeni G., Gualdi G.F., Antonozzi I. Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients. J Inherit Metab Dis 1995, 18:624-634.
30. Birnbacher R., Scheibenreiter S., Blau N., Bieglmayer C., Frisch H., Waldhauser F. Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. Pediatr Res 1998, 43:472-477.
31. Brotchie J.M., Lee J., Venderova K. Levodopa-induced dyskinesia in Parkinson's disease. J Neural Transm 2005, 112:359-391.
32. Jankovic J. Motor fluctuations and dyskinesias in Parkinson's disease: clinical manifestations. Mov Disord 2005, 20:S11-S16.
33. Tanaka Y., Matsuo N., Tsuzaki S., Araki K., Tsuchiya Y., Niederwieser A. On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). Eur J Pediatr 1989, 148:450-452.
34. Porta F., Mussa A., Concolino D., Spada M., Ponzone A. Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. Neurology 2009, 73:633-637.
35. Schuler A., Kálmánchey R., Barsi P., Somogyi C.S., Törös I., Váradi I., et al. Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies. J Inherit Metab Dis 2000, 23:329-332.