高フェニルアラニン血症
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/04/05 11:31:04」(JST)
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Hyperphenylalaninemia |
Classification and external resources |
ICD-10 |
E70.1 (also includes non-classic PKU) |
ICD-9 |
270.1 (PKU) |
OMIM |
261600 261630 |
MeSH |
D010661 |
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated levels of the amino acid phenylalanine in the blood. Severe hyperphenylalaninemia results in phenylketonuria (PKU)[1]. Phenylalanine concentrations ([phe]) are routinely screened in newborns by the Guthrie test, which takes a few drops of blood from the heel of the infant. Standard [phe] concentrations in unaffected persons are ~60 uM: [phe] concentrations in persons with untreated phenylketonuria may be times 600 ~ 2400 uM, which indicate that the child is at risk for severe mental retardation. Phenylketonuria is classed as an autosomal recessive condition: in heterozygotes from, [phe] shows a moderate elevation, perhaps two-fold over unaffected homozygotes, which is classified as Hyperphenylalaninemia [hyper + phenylalanine + emia = high phe in blood].
Persons with the genotype for PKU are unaffected in utero because maternal circulation prevents buildup of [phe]. After birth, PKU in newborns is treated by a special diet with highly restricted phenylalanine content. Persons with genetic predisposition to PKU have normal mental development on this diet. Previously, it was thought safe to withdraw from the diet in the late teens or early twenties, after the central nervous system was fully developed; recent studies suggest some degree of relapse and a phenylalanine-restricted diet is now recommended.
PKU or Hyperphenylalaninemia may also occur in persons without the PKU genotype. If the mother has the PKU genotype but has been treated so as to be asymptomatic, high levels of [phe] in the maternal blood circulation may affect the non-PKU fetus during gestation. Mothers successfully treated for PKU are advised to return to the [phe]-restricted diet during pregnancy.
References
- Online Mendelian Inheritance in Man (OMIM)[2] entry on phenylketonuria [3]
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English Journal
- Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.
- Teissier R, Nowak E, Assoun M, Mention K, Cano A, Fouilhoux A, Feillet F, Ogier H, Oger E, de Parscau L; On behalf of the AFDPHE (Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant).SourceDepartment of Pediatrics, Brest University Hospital, CHRU Morvan, 2 avenue Foch, 29200, Brest, France, raphael.teissier@chu-brest.fr.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2012 Nov;35(6):993-999. Epub 2012 Jun 5.
- BACKGROUND: Malformations and mental retardation in the offspring of women with Phenylketonuria (PKU) can be prevented by maintaining maternal blood Phenylalanine (PHE) within a target range (120-300 μmol/L) through a PHE-restricted diet. In a former French study, a high and unexpected proportion
- PMID 22669364
- In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria.
- Pascucci T, Giacovazzo G, Andolina D, Conversi D, Cruciani F, Cabib S, Puglisi-Allegra S.SourceDepartment of Psychology and Centre "Daniel Bovet", "Sapienza" University, via dei Marsi 78, 00185, Rome, Italy, tiziana.pascucci@uniroma1.it.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2012 Nov;35(6):1001-9. doi: 10.1007/s10545-012-9473-2. Epub 2012 Mar 24.
- OBJECTIVE: Phenylketonuria (PKU) is an inherited metabolic disease characterized by plasma hyperphenylalaninemia and several neurological symptoms that can be controlled by rigorous dietetic treatment. The cellular mechanisms underlying impaired brain functions are still unclear. It has been propose
- PMID 22447154
Japanese Journal
- Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan
- Okano Yoshiyuki,Kudo Satoshi,Nishi Yasuaki [他]
- Journal of human genetics 56(4), 306-312, 2011-04
- NAID 40018765631
- Advanced Research on Dopamine Signaling to Develop Drugs for the Treatment of Mental Disorders : Regulation of Dopaminergic Neural Transmission by Tyrosine Hydroxylase Protein at Nerve Terminals
- SUMI ICHINOSE Chiho,ICHINOSE Hiroshi,IKEMOTO Kazuhisa,NOMURA Takahide,KONDO Kazunao
- Journal of pharmacological sciences 114(1), 17-24, 2010-09-20
- … The Pts−/−-DPS mice developed hyperphenylalaninemia. …
- NAID 10029889595
Related Links
- hyperphenylalaninemia /hy·per·phen·yl·al·a·nin·emia/ (-fen″il-al″ah-nĭ-ne´me-ah) 1. any of several inherited defects in the hydroxylation of phenylalanine causing it to be accumulated and excreted; some are benign while others cause ...
- Hyperphenylalaninemia. Hyperphenylalaninemia is broadly defined as the presence of blood phenylalanine levels that exceed the limits of the upper reference range (2 mg/dL or 120 mmol/L) but trail the levels found in ... ...
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- 英
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- フェニルケトン尿症
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高フェニルアラニン血症