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Volumn 110, Issue 4, 2013, Pages 424-430

Optimal serum phenylalanine for adult patients with phenylketonuria

Author keywords

Magnetic resonance imaging; Nitric oxide; Oxidative stress; Oxysterol; Phenylalanine; Phenylketonuria

Indexed keywords

CHOLESTEROL; COLECALCIFEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; NITRIC OXIDE; OXYSTEROL; PHENYLALANINE; VITAMIN D;

EID: 84897059113     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.09.007     Document Type: Review
Times cited : (28)

References (59)
  • 1
    • 0000134296 scopus 로고    scopus 로고
    • Hyperphenylalaninemia: phenylalanine hydroxylase deficiency
    • McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Sly (Eds.)
    • Scriver C.R., Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. The Metabolic and Molecular Bases of Inherited Disease 2001, 1667-1724. McGraw-Hill, New York. eighth ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Sly (Eds.).
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1667-1724
    • Scriver, C.R.1    Kaufman, S.2
  • 2
    • 4644352361 scopus 로고    scopus 로고
    • Adult phenylketonuria
    • Hanley W.B. Adult phenylketonuria. Am. J. Med. 2004, 117:590-595.
    • (2004) Am. J. Med. , vol.117 , pp. 590-595
    • Hanley, W.B.1
  • 3
    • 66149104499 scopus 로고    scopus 로고
    • Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet
    • Lee P.J., Amos A., Robertson L., Fitzgerald B., Hoskin R., Lilburn M., Weetch E., Murphy G. Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet. J. Neurol. Neurosurg. Psychiatry 2009, 80:631-635.
    • (2009) J. Neurol. Neurosurg. Psychiatry , vol.80 , pp. 631-635
    • Lee, P.J.1    Amos, A.2    Robertson, L.3    Fitzgerald, B.4    Hoskin, R.5    Lilburn, M.6    Weetch, E.7    Murphy, G.8
  • 12
    • 22544456859 scopus 로고    scopus 로고
    • Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter
    • Kono K., Okano Y., Nakayama K., Hase Y., Minamikawa S., Ozawa N., Yokote H., Inoue Y. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 2005, 236:630-636.
    • (2005) Radiology , vol.236 , pp. 630-636
    • Kono, K.1    Okano, Y.2    Nakayama, K.3    Hase, Y.4    Minamikawa, S.5    Ozawa, N.6    Yokote, H.7    Inoue, Y.8
  • 13
    • 0028068186 scopus 로고
    • Free radicals, antioxidants, and human disease: curiosity, cause, or consequence?
    • Halliwell B. Free radicals, antioxidants, and human disease: curiosity, cause, or consequence?. Lancet 1994, 344:721-724.
    • (1994) Lancet , vol.344 , pp. 721-724
    • Halliwell, B.1
  • 14
    • 0003068601 scopus 로고
    • Free radicals and antioxidants in muscular neurological diseases and disorders
    • Birkhauser Verlag, Basel, G. Poli, B. Albano, M.U. Dianzani (Eds.)
    • Reznick A.Z., Packer L. Free radicals and antioxidants in muscular neurological diseases and disorders. Free Radical: From Basic Science to Medicine 1993, 425-437. Birkhauser Verlag, Basel. G. Poli, B. Albano, M.U. Dianzani (Eds.).
    • (1993) Free Radical: From Basic Science to Medicine , pp. 425-437
    • Reznick, A.Z.1    Packer, L.2
  • 15
    • 0030032259 scopus 로고    scopus 로고
    • Brain superoxide dismutase, catalase, and glutathione peroxidase activities in amyotrophic lateral sclerosis
    • Przedborski S., Donaldson D., Jacowec M., Kish S.J., Guttman M., Rosoklija G., Hays A.P. Brain superoxide dismutase, catalase, and glutathione peroxidase activities in amyotrophic lateral sclerosis. Ann. Neurol. 1996, 39:158-165.
    • (1996) Ann. Neurol. , vol.39 , pp. 158-165
    • Przedborski, S.1    Donaldson, D.2    Jacowec, M.3    Kish, S.J.4    Guttman, M.5    Rosoklija, G.6    Hays, A.P.7
  • 16
    • 0028841122 scopus 로고
    • Modulating hypoxia-induced hepatocyte injury by affecting intracellular redox state
    • Khan S., O'Brien P.J. Modulating hypoxia-induced hepatocyte injury by affecting intracellular redox state. Biochim. Biophys. Acta 1995, 1269:153-161.
    • (1995) Biochim. Biophys. Acta , vol.1269 , pp. 153-161
    • Khan, S.1    O'Brien, P.J.2
  • 17
    • 0032874392 scopus 로고    scopus 로고
    • The role of cytosolic reductive stress in oxidant formation and diabetic complications
    • Williamson J.R., Kilo C., Ido Y. The role of cytosolic reductive stress in oxidant formation and diabetic complications. Diabetes Res. Clin. Pract. 1999, 45:81-82.
    • (1999) Diabetes Res. Clin. Pract. , vol.45 , pp. 81-82
    • Williamson, J.R.1    Kilo, C.2    Ido, Y.3
  • 18
    • 0034672672 scopus 로고    scopus 로고
    • Oxysterol biosynthetic enzymes
    • Russell D.W. Oxysterol biosynthetic enzymes. Biochim. Biophys. Acta 2000, 1529:126-135.
    • (2000) Biochim. Biophys. Acta , vol.1529 , pp. 126-135
    • Russell, D.W.1
  • 23
    • 4744367468 scopus 로고    scopus 로고
    • Arginine metabolic enzymes, nitric oxide and infection
    • Mori M., Gotoh T. Arginine metabolic enzymes, nitric oxide and infection. J. Nutr. 2004, 134:2820S-2825S.
    • (2004) J. Nutr. , vol.134
    • Mori, M.1    Gotoh, T.2
  • 24
    • 0025883342 scopus 로고
    • Nitric oxide: physiology, pathophysiology, and pharmacology
    • Moncada S., Palmer R.M., Higgs E.A. Nitric oxide: physiology, pathophysiology, and pharmacology. Pharmacol. Rev. 1991, 43:109-142.
    • (1991) Pharmacol. Rev. , vol.43 , pp. 109-142
    • Moncada, S.1    Palmer, R.M.2    Higgs, E.A.3
  • 26
    • 33645780634 scopus 로고    scopus 로고
    • Endothelial nitric oxide synthase in vascular disease: from marvel to menace
    • Förstermann U., Münzel T. Endothelial nitric oxide synthase in vascular disease: from marvel to menace. Circulation 2006, 113:1708-1714.
    • (2006) Circulation , vol.113 , pp. 1708-1714
    • Förstermann, U.1    Münzel, T.2
  • 27
    • 27544439857 scopus 로고    scopus 로고
    • Oxidative stress disrupts nitric oxide synthase activation in liver endothelial cells
    • Karaa A., Kamoun W.S., Clemens M.G. Oxidative stress disrupts nitric oxide synthase activation in liver endothelial cells. Free Radic. Biol. Med. 2005, 39:1320-1331.
    • (2005) Free Radic. Biol. Med. , vol.39 , pp. 1320-1331
    • Karaa, A.1    Kamoun, W.S.2    Clemens, M.G.3
  • 28
    • 0036451582 scopus 로고    scopus 로고
    • The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria
    • Barat P., Barthe N., Redonnet-Vernhet I., Parrot F. The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria. Eur. J. Pediatr. 2002, 161:687-688.
    • (2002) Eur. J. Pediatr. , vol.161 , pp. 687-688
    • Barat, P.1    Barthe, N.2    Redonnet-Vernhet, I.3    Parrot, F.4
  • 30
    • 1542327596 scopus 로고    scopus 로고
    • A study of bone turnover markers in prepubertal children with phenylketonuria
    • Ambroszkiewicz J., Gajewska J., Laskowska-Klita T. A study of bone turnover markers in prepubertal children with phenylketonuria. Eur. J. Pediatr. 2004, 163:177-178.
    • (2004) Eur. J. Pediatr. , vol.163 , pp. 177-178
    • Ambroszkiewicz, J.1    Gajewska, J.2    Laskowska-Klita, T.3
  • 33
    • 33645824921 scopus 로고    scopus 로고
    • Markers of bone turnover: biochemical and clinical perspectives
    • Pagani F., Francucci C.M., Moro L. Markers of bone turnover: biochemical and clinical perspectives. J. Endocrinol. Invest. 2005, 28(Suppl. 10):8-13.
    • (2005) J. Endocrinol. Invest. , vol.28 , Issue.SUPPL. 10 , pp. 8-13
    • Pagani, F.1    Francucci, C.M.2    Moro, L.3
  • 34
    • 0034087029 scopus 로고    scopus 로고
    • Biochemical measurements of bone turnover in children and adolescents
    • Szulc P., Seeman E., Delmas P.D. Biochemical measurements of bone turnover in children and adolescents. Osteoporos. Int. 2000, 11:281-294.
    • (2000) Osteoporos. Int. , vol.11 , pp. 281-294
    • Szulc, P.1    Seeman, E.2    Delmas, P.D.3
  • 35
    • 34248199829 scopus 로고    scopus 로고
    • Coenzyme Q10 in phenylketonuria and mevalonicaciduria
    • Hargreaves I.P. Coenzyme Q10 in phenylketonuria and mevalonicaciduria. Mitochondrion 2007, 7:S175-S180.
    • (2007) Mitochondrion , vol.7
    • Hargreaves, I.P.1
  • 36
    • 0023898126 scopus 로고
    • Inhibition of brain and liver 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase in experimental hyperphenylalaninemia
    • Castillo M., Zafra M.F., Garcia-Peregrin E. Inhibition of brain and liver 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase in experimental hyperphenylalaninemia. Neurochem. Res. 1988, 13:551-555.
    • (1988) Neurochem. Res. , vol.13 , pp. 551-555
    • Castillo, M.1    Zafra, M.F.2    Garcia-Peregrin, E.3
  • 37
    • 0034283890 scopus 로고    scopus 로고
    • Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and forebrain pathology in the PKU mouse?
    • Shefer S., Tint G.S., Jean-Guillaume D., Daikhin E., Kendler A., Nguyen L.B., Yudkoff M., Dyer C.A. Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and forebrain pathology in the PKU mouse?. J. Neurosci. Res. 2000, 61:549-563.
    • (2000) J. Neurosci. Res. , vol.61 , pp. 549-563
    • Shefer, S.1    Tint, G.S.2    Jean-Guillaume, D.3    Daikhin, E.4    Kendler, A.5    Nguyen, L.B.6    Yudkoff, M.7    Dyer, C.A.8
  • 38
    • 79954986242 scopus 로고    scopus 로고
    • Oxysterol derivatives of cholesterol in neurodegenerative disorders
    • Jeitner T.M., Voloshyna I., Reiss A.B. Oxysterol derivatives of cholesterol in neurodegenerative disorders. Curr. Med. Chem. 2011, 18:1515-1525.
    • (2011) Curr. Med. Chem. , vol.18 , pp. 1515-1525
    • Jeitner, T.M.1    Voloshyna, I.2    Reiss, A.B.3
  • 40
    • 80051472136 scopus 로고    scopus 로고
    • Oxysterols as biomarkers in neurodegenerative diseases
    • Leoni V., Caccia C. Oxysterols as biomarkers in neurodegenerative diseases. Chem. Phys. Lipids 2011, 164:515-524.
    • (2011) Chem. Phys. Lipids , vol.164 , pp. 515-524
    • Leoni, V.1    Caccia, C.2
  • 42
    • 0033594903 scopus 로고    scopus 로고
    • CDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain
    • Lund E.G., Guileyardo J.M., Russell D.W. cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:7238-7243.
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.96 , pp. 7238-7243
    • Lund, E.G.1    Guileyardo, J.M.2    Russell, D.W.3
  • 44
    • 58849154028 scopus 로고    scopus 로고
    • Impact of 27-hydroxycholesterol on amyloid-beta peptide production and ATP-binding cassette transporter expression in primary human neurons
    • Kim W.S., Chan S.L., Hill A.F., Guillemin G.J., Garner B. Impact of 27-hydroxycholesterol on amyloid-beta peptide production and ATP-binding cassette transporter expression in primary human neurons. J. Alzheimers Dis. 2009, 16:121-131.
    • (2009) J. Alzheimers Dis. , vol.16 , pp. 121-131
    • Kim, W.S.1    Chan, S.L.2    Hill, A.F.3    Guillemin, G.J.4    Garner, B.5
  • 45
    • 77953674112 scopus 로고    scopus 로고
    • Effects of cholesterol and its 24S-OH and 25-OH oxysterols on choline acetyltransferase-positive neurons in brain slices
    • Ullrich C., Pirchl M., Humpel C. Effects of cholesterol and its 24S-OH and 25-OH oxysterols on choline acetyltransferase-positive neurons in brain slices. Pharmacology 2010, 86:15-21.
    • (2010) Pharmacology , vol.86 , pp. 15-21
    • Ullrich, C.1    Pirchl, M.2    Humpel, C.3
  • 46
    • 33745756094 scopus 로고    scopus 로고
    • Cholesterol metabolism in the brain: importance of 24S-hydroxylation
    • Lütjohann D. Cholesterol metabolism in the brain: importance of 24S-hydroxylation. Acta Neurol. Scand. Suppl. 2006, 185:33-42.
    • (2006) Acta Neurol. Scand. Suppl. , vol.185 , pp. 33-42
    • Lütjohann, D.1
  • 47
    • 0026056827 scopus 로고
    • Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging
    • Bick U., Fahrendorf G., Ludolph A.C., Vassallo P., Weglage J., Ullrich K. Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging. Eur. J. Pediatr. 1991, 150:185-189.
    • (1991) Eur. J. Pediatr. , vol.150 , pp. 185-189
    • Bick, U.1    Fahrendorf, G.2    Ludolph, A.C.3    Vassallo, P.4    Weglage, J.5    Ullrich, K.6
  • 52
    • 0027442717 scopus 로고
    • White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings
    • Bick U., Ullrich K., Stöber U., Möller H., Schuierer G., Ludolph A.C., Oberwittler C., Weglage J., Wendel U. White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur. J. Pediatr. 1993, 152:1012-1020.
    • (1993) Eur. J. Pediatr. , vol.152 , pp. 1012-1020
    • Bick, U.1    Ullrich, K.2    Stöber, U.3    Möller, H.4    Schuierer, G.5    Ludolph, A.C.6    Oberwittler, C.7    Weglage, J.8    Wendel, U.9
  • 53
    • 0029095727 scopus 로고
    • Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change
    • Cleary M.A., Walter J.H., Wraith J.E., White F., Tyler K., Jenkins J.P.R. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J. Pediatr. 1995, 127:251-255.
    • (1995) J. Pediatr. , vol.127 , pp. 251-255
    • Cleary, M.A.1    Walter, J.H.2    Wraith, J.E.3    White, F.4    Tyler, K.5    Jenkins, J.P.R.6
  • 57
    • 0019156116 scopus 로고
    • Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies
    • Lenke R.R., Levy H.L. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N. Engl. J. Med. 1980, 303:1202-1208.
    • (1980) N. Engl. J. Med. , vol.303 , pp. 1202-1208
    • Lenke, R.R.1    Levy, H.L.2
  • 58
    • 0022569554 scopus 로고
    • Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria
    • Okano Y., Chow I.Z., Isshiki G., Inoue A., Oura T. Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria. J. Inherit. Metab. Dis. 1986, 9:15-24.
    • (1986) J. Inherit. Metab. Dis. , vol.9 , pp. 15-24
    • Okano, Y.1    Chow, I.Z.2    Isshiki, G.3    Inoue, A.4    Oura, T.5
  • 59
    • 0014930976 scopus 로고
    • Hyperphenylalaninemia: disaggregation of brain polyribosomes in young rats
    • Aoki K., Siegel F.L. Hyperphenylalaninemia: disaggregation of brain polyribosomes in young rats. Science 1970, 168:129-130.
    • (1970) Science , vol.168 , pp. 129-130
    • Aoki, K.1    Siegel, F.L.2


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