異型高フェニルアラニン血症
- 関
- classical phenylketonuria、phenylketonuria
WordNet
- not representative of a group, class, or type; "a group that is atypical of the target audience"; "a class of atypical mosses"; "atypical behavior is not the accepted type of response that we expect from children" (同)untypical
- deviating from normal expectations; somewhat odd, strange, or abnormal; "these days large families are atypical"; "atypical clinical findings"; "atypical pneumonia"; "highly irregular behavior" (同)irregular
- a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency (同)PKU
PrepTutorEJDIC
- 型にはまらない,異常な
UpToDate Contents
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English Journal
- Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
- Chaiyasap P1, Ittiwut C1,2, Srichomthong C1,2, Sangsin A3, Suphapeetiporn K4,5,6, Shotelersuk V1,2.
- BMC medical genetics.BMC Med Genet.2017 Sep 16;18(1):102. doi: 10.1186/s12881-017-0464-x.
- PMID 28915855
- DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
- Item CB1, Farhadi S2, Schanzer A2, Greber-Platzer S2.
- Clinical biochemistry.Clin Biochem.2017 Aug;50(12):729-732. doi: 10.1016/j.clinbiochem.2017.04.001. Epub 2017 Apr 4.
- PMID 28389235
- Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
- Porta F1, Spada M2, Ponzone A2.
- Pediatrics.Pediatrics.2017 Aug;140(2). pii: e20161591. doi: 10.1542/peds.2016-1591. Epub 2017 Jul 5.
- PMID 28679641
Japanese Journal
- 一瀬 鷲見 千穂,大槻 眞嗣,白石 弘章 [他],野村 隆英
- 日本薬理学雑誌 118(6), 371-377, 2001-12-01
- テトラヒドロビオプテリン((6R)-L-erythrotetrahydrobiopterin, BH4)は生体内でGTPを基質として生合成される. 生合成酵素は, 律速段階であるGTPシクロヒドロラーゼI, 6-ピルボイルテトラヒドロプテリン合成酵素(6-pyruvoyl-tetrahydropterin synthase, PTPS), セピアプテリン還元酵素から成る. BH4生成の異常で生じる …
- NAID 10008181412
- Hyperphenylalaninemia syndromes: Current status of diagnosis and management.
- 松尾 宣武
- The Keio Journal of Medicine 37(1), 1-9, 1988
- … This article discusses on some of the newer developments in the study of the physiology and pathophysiology of human phenylalanine metabolism: 1) the phenylalanine hydroxylating system, 2) the early diagnosis of hyperphenylalaninemia syndromes, 3) the molecular basis for phenotypic heterogeneity of phenylketonuria, 4) the prenatal diagnosis of phenylketonuria, and 5) hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism. …
- NAID 80003775942
- 高柳 正樹
- 千葉医学雑誌 59(5), 309-317, 1983-10
- 1977年10月より1981年9月までの4年間の,千葉県下における178,500例の新生児代謝異常マススクリーニングにより得られた120例の精検症例を検討することにより,30例のヒスチジン血症,1例の非典型的高チロジン血症を発見した。この期間中ホモシスチン尿症,フェニールケトン尿症,ガラクトース血症,メープルシロップ尿症は発見できなかった。ヒスチジン血症の発生率は5400人に1例であり,全国平均の …
- NAID 110006444701
Related Links
- Abstract Nine children with atypical phenylketonuria are described from a Phenylketonuric Clinic of 56 children. The diagnostic criteria are (i) raised serum phenylalanine level, 4-20 mg./100 ml.; (ii) phenylalanine ...
- Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred ...
Related Pictures
★リンクテーブル★
[★]
- 英
- atypical phenylketonuria
- 関
- フェニルケトン尿症、古典的フェニルケトン尿症
[★]
古典的フェニルケトン尿症
- 関
- atypical phenylketonuria、phenylketonuria
[★]
- 関
- atypia、atypically、atypism、meta、nonclassic、off-type、variant
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フェニルケトン尿症 PKU