Large neutral amino acid therapy and phenylketonuria: A promising approach to treatment

Molecular Genetics and Metabolism

Volumn 79, Issue 2, 2003, Pages 110-113

  Koch, Richard ^a   Moseley, Kathryn D ^a   Yano, Shoji ^a   Nelson Jr , Marvin ^b   Moats, Rex A ^b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

Dopamine; Magnetic resonance spectroscopy; Phenylalanine hydroxylase; PreKUnil; Serotonin; Tryptophan; Tyrosine

Indexed keywords

AMINO ACID; DOPAMINE; PHENYLALANINE; PREKUNIL; SEROTONIN; TRYPTOPHAN; TYROSINE;

ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; COUNSELING; DEPRESSION; DRUG BLOOD LEVEL; FEMALE; GENERAL CONDITION IMPROVEMENT; HUMAN; MALE; PHENYLKETONURIA; PRIORITY JOURNAL; PSYCHIATRIC DIAGNOSIS;

EID: 0037941238     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00078-7     Document Type: Article

References (29)

1. Bickel H., Gerrard J., Hickmans E.M. Influence of phenylalanine intake on phenylketonuria. Lancet. 2:1953;812-813.
2. Schuett V.E., Brown E.S. Diet policies of PKU clinics in the United States. Am. J. Public Health. 7:1984;501-502.
3. Finkelson L., Bailey I., Waisbren S.E. PKU adults and their return to diet: predicting diet continuation and maintenance. J. Inherit. Metab. Dis. 24:2001;515-516.
4. Walter J.H., White F.J.et al. How practical are recommendations for dietary control in phenylketonuria? Lancet. 360:2002;55-57.
5. National PKU News: State Laws and Policies. http://web47.radiant.net/~pkunews/rights/lobby6.htm.
6. Christensen H.N. Metabolism of amino acids and proteins. Ann. Rev. Biochem. 22:1953;235.
7. Andersen A.E., Avins L. Lowering brain phenylalanine levels by giving other large neutral amino acids. Arch. Neurol. 33:1976;684-686.
8. Lou H. Large doses of tryptophan and tyrosine as potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria. Lancet. II:1985;150-151.
9. Berry H.K., Brunner R.L., Hunt M.M., White P.P. Valine, isoleucine, and leucine: a new treatment for phenylketonuria. Am. J. Dis. Child. 144:1990;539-543.
10. Pratt O.E. A new approach to the treatment of phenylketonuria. J. Ment. Defic. Res. 24:1980;203-217.
11. Nielsen J.B., Lou H.C., Güttler F. Effects of diet discontinuation and dietary tryptophan supplementation on neurotransmitter metabolism in phenylketonuria. Brain Dysfunct. 1:1988;51-56.
12. Lykkelund D., Nielsen J.B.et al. Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine. Eur. J. Pediatr. 148:1988;238-245.
13. Moats R.A., Koch R.et al. Brain phenylalanine concentration in the management of adults with phenylketonuria. J. Inherit. Metab. Dis. 22(35551):1999;1-8.
14. Weglage J., Wiedermann D.et al. Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. Ann. Neurol. 50:2001;463-467.
15. Pietz J.et al. Phenylketonuria findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment. Radiology. 201:1996;413-420.
16. Pietz J., Kreis R.et al. Large neutral amino acids block phenylketonuria transport into brain tissue in patients with phenylketonuria. J. Clin. Invest. 103:1999;1169-1178.
17. Lou H.C., Toft P.B., Andersen J.et al. Unchanged MRI of myelin in adolescents with PKU supplied with non-phe essential amino acids after dietary relaxation. Acta Paediatr. 83:1994;1312-1314.
18. K.K. Ahring, J. Andreasen, I. Mikkelsen, Benefits of using PreKUnil tablets as a treatment for adults with phenylketonuria (PKU) in Denmark, 1999. Abstract from the 4th meeting of the International Society of Neonatal Screening, Stockholm, Sweden.
19. 1H magnetic resonance spectroscopy. J. Magn. Reson. B. 107:1995;242-251.
20. Johannik K., Francois B., Marchal G.et al. Localized brain proton NMR spectroscopy in young adult phenylketonuria patients. Magn. Reson. Med. 31:1994;53-57.
21. Ullrich K., Weglage J., Hahn-Ullrich H.et al. Magnetic resonance imaging and proton spectroscopy in PKU. Inter. Pediatr. 10:1995;95-99.
22. Möller J., Ullrich K., Weglage J., Koch H.G., Peters P.E. In vivo NMR spectroscopy in patients with phenylketonuria: change of cerebral phenylalanine levels under dietary treatment. Neuropediatrics. 16:1995;199-202.
23. Novotny E.J.et al. In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy. Pediatr. Res. 37:1995;244-249.
24. Guldberg P., Güttler F. Broad-range DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene. Nucleic Acids Res. 22:1998;880-881.
25. Koch R., Moats R.A., Güttler F., Guldberg P., Nelson M. Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics. 106(5):2000;1093-1096.
26. R. Matalon, S. Surendran, K. Michals-Matalon, et al., Large neutral amino acids (LNAA) and brain phenylalanine (Phe) in mouse model for phenylketonuris (PKU) (2002) (Suppl. 1) 14 (Abstract, SSIEM Dublin, Ireland).
27. Guttler F., Lou H. Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function. J. Inherit. Metab. Dis. (Suppl. 2):1986;169-177.
28. Puglisi-Allegra S., Cabib S., Pascucci T., Ventura R., Cali F., Romano V. Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria. Neuroreport. 11:2000;1361-1364.
29. Blows W.T. Neurotransmitters of the brain: serotonin, noradrenaline (norepinephrine), and dopamine. J. Neurosci. Nurs. 32:2000;237-238.