bifunctional enzyme deficiency

二頭酵素欠損症

WordNet

1. any of several complex proteins that are produced by cells and act as catalysts in specific biochemical reactions

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. 酵素

UpToDate Contents

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• 1. ペルオキシソーム病 peroxisomal disorders
• 2. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 3. グリコーゲン分枝酵素欠損症（糖原病IV型、アンダーセン病） glycogen branching enzyme deficiency glycogen storage disease iv andersen disease
• 4. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 5. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency

English Journal

• Peroxisomes in brain development and function.

• Berger J1, Dorninger F2, Forss-Petter S3, Kunze M4.
• Biochimica et biophysica acta.Biochim Biophys Acta.2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Epub 2015 Dec 11.
• Peroxisomes contain numerous enzymatic activities that are important for mammalian physiology. Patients lacking either all peroxisomal functions or a single enzyme or transporter function typically develop severe neurological deficits, which originate from aberrant development of the brain, demyelin
• PMID 26686055

• Regulation of Chlamydomonas flagella and ependymal cell motile cilia by ceramide-mediated translocation of GSK3.

• Kong JN1, Hardin K1, Dinkins M1, Wang G1, He Q1, Mujadzic T1, Zhu G1, Bielawski J2, Spassieva S3, Bieberich E4.
• Molecular biology of the cell.Mol Biol Cell.2015 Dec 1;26(24):4451-65. doi: 10.1091/mbc.E15-06-0371. Epub 2015 Oct 7.
• Cilia are important organelles formed by cell membrane protrusions; however, little is known about their regulation by membrane lipids. We characterize a novel activation mechanism for glycogen synthase kinase-3 (GSK3) by the sphingolipids phytoceramide and ceramide that is critical for ciliogenesis
• PMID 26446842

• Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.

• Konkoľová J1, Petrovič R2, Chandoga J2, Repiský M2, Zelinková H2, Kršiaková J3, Kolníková M4, Kantarská D5, Šutovský S6, Böhmer D2.
• Gene.Gene.2015 Aug 15;568(1):61-8. doi: 10.1016/j.gene.2015.05.020. Epub 2015 May 9.
• D-bifunctional protein deficiency (#OMIM 261515) is a rare autosomal recessive hereditary metabolic disorder causing severe clinical and biochemical abnormalities that are usually fatal in the course of the first years of life. This disease is classified as single enzyme peroxisomal disorder affecti
• PMID 25967389

Japanese Journal

• 極長鎖脂肪酸の反復検査で診断し得たD-bifunctional protein欠損症の1例

• 塩田 睦記,舟塚 真,小田 絵里 [他],白戸 由理,竹下 暁子,石垣 景子,齋藤 加代子,下澤 伸行,大澤 真木子,SHIODA Mutsuki,FUNATSUKA Makoto,ODA Eri,SHIRATO Yuri,TAKESHITA Akiko,ISHIGAKI Keiko,SAITO Kayoko,SHIMOZAWA Nobuyuki,OSAWA Makiko
• 東京女子医科大学雑誌 83(E1), E103-E106, 2013-01-31
• … D-bifunctional protein欠損症(以下DBP欠損症)は、ペルオキシゾーム病の1型でβ酸化系酵素単独欠損症である。 …
• NAID 110009559397

• Hydratase Activities of Green Fluorescent Protein Tagged Human Multifunctional Enzyme Type 2 Hydratase Domain and its Variants

• Tsuchida Shirou,Kawamoto Koutarou,Endo Noriko [他]
• Journal of Oleo Science 61(8), 443-450, 2012-08
• NAID 40019348714

• A-15 A New Peroxisomal Enzyme, D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein(D-Bifunctional Protein) : Its Expression in the Human Brain of Normal Development and Patients with Deficiency.

• ITOH M.,SUZUKI Y.,TAKASHIMA S.
• Congenital anomalies 38(3), 309-310, 1998-09-30
• NAID 110002788084

Related Links

• Peroxisomal bifunctional enzyme deficiency.

These results indicate that the primary biochemical defect in this patient is a deficiency of peroxisomal bifunctional enzyme. It is of interest that the phenotype of this patient resembled neonatal adrenoleukodystrophy and would . ...

• Bifunctional enzyme deficiency | Disease | Symptoms | Office ...

The Human Phenotype Ontology provides the following list of signs and symptoms for Bifunctional enzyme deficiency. If the information is available, the table below includes how often the symptom is ...

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★リンクテーブル★

リンク元	「二頭酵素欠損症」
関連記事	「deficiency」「bifunctional」「enzyme deficiency」

「二頭酵素欠損症」

　　[★]

英

bifunctional enzyme deficiency

関

ペルオキシソーム二頭酵素欠損症 peroxisomal bifunctional enzyme

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「bifunctional」

　　[★]

• 二機能性の、(化学)二官能性の

「enzyme deficiency」

　　[★] 酵素欠乏症、酵素欠損症