ビタミンB6依存性痙攣
WordNet
- relying on or requiring a person or thing for support, supply, or what is needed; "dependent children"; "dependent on moisture"
- addicted to a drug (同)dependant, drug-addicted, hooked, strung-out
- contingent on something else (同)dependant, qualified
- (of a clause) unable to stand alone syntactically as a complete sentence; "a subordinate (or dependent) clause functions as a noun or adjective or adverb within a sentence" (同)subordinate
- a violent disturbance; "the convulsions of the stock market" (同)turmoil, upheaval
- violent uncontrollable contractions of muscles
- a physical disturbance such as an earthquake or upheaval
- the 2nd letter of the Roman alphabet (同)b
- the blood group whose red cells carry the B antigen (同)type_B, group B
- any of a group of organic substances essential in small quantities to normal metabolism
PrepTutorEJDIC
- 『頼っている』,依存している,従属している / 扶養される人(家族)
- 《複数形で》けいれん,ひきつけ / 《複数形で》とめどもない大笑い / 震動,激動;動乱
- 『ビタミン』,栄養素(身体の喜常な機能を維持するために少量ながら必要な有機化合物)
UpToDate Contents
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English Journal
- Vitamin B6 dependent seizures.
- Plecko B, Stöckler S.SourceDivision of Biochemical Diseases and Cystic Fibrosis, Children's and Women's Health Center, University of British Columbia, Vancouver, BC, Canada.
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.Can J Neurol Sci.2009 Aug;36 Suppl 2:S73-7.
- Vitamin B6 is an abundant cofactor in aminoacid- and neurotransmitter metabolism. Physiologic availability depends on dietary supply, intact absorption and conversion of pyridoxamine and pyridoxine into the only active cofactor, pyridoxal-5'-phosphate (PLP) in liver. By now we know of four genetic e
- PMID 19760909
- Enzyme replacement therapy for murine hypophosphatasia.
- Millán JL, Narisawa S, Lemire I, Loisel TP, Boileau G, Leonard P, Gramatikova S, Terkeltaub R, Camacho NP, McKee MD, Crine P, Whyte MP.SourceBurnham Institute for Medical Research, La Jolla, California 92037, USA. millan@burnham.org
- Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.J Bone Miner Res.2008 Jun;23(6):777-87.
- INTRODUCTION: Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of-function mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNALP). Consequently, natural substrates for this ectoenzyme accumu
- PMID 18086009
Japanese Journal
- Vitamin B6-dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B6 dependent convulsion
- Yoshida Toshio [他]
- Tohoku Journal of Experimental Medicine 104(2), 195-198, 1971-06
- NAID 40018682345
Related Links
- Vitamin B6-dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B6 dependent convulsion.(In Japanese) Tohoku J Exp Med. (1971)104: 195-198. 18 Cherayil G D, Cyrus A E Jr Effect of 4 brain. 19 ...
- Vitamin B6 is also used to treat hereditary sideroblastic anemia, vitamin B6 deficiency, and vitamin B6-dependent seizures in newborns, and to prevent adverse effects in people taking the medication cycloserine. Evidence in ? ...
- Article [Vitamin B6 dependency syndrome (vitamin B6 dependent seizures, convulsions)]. S Tanase Department of Biochemistry, Kumamoto University School of Medicine. Ryōikibetsu shōkōgun shirīzu 02/1998; Source: PubMed
★リンクテーブル★
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- 英
- vitamin B6-dependent convulsion
- 関
- ビタミンB6、新生児痙攣、ビタミンB6依存症、ビタミンB6欠乏症
- ビタミンB6代謝に関わる酵素異常によりビタミンB6の欠乏を来していることが病因と考えられている。
- 常染色体劣性遺伝であり、原因遺伝子は5q23.2に座乗しているALDH7A1遺伝子とされている。(参考1)
参考
- 1. EPILEPSY, PYRIDOXINE-DEPENDENT; EPD - OMIM
- 5q23.2
- http://omim.org/entry/266100
uptodate
- 1. [charged] 新生児痙攣の治療 - uptodate [1]
- 2. [charged] 痙攣発作およびてんかんの病態生理 - uptodate [2]
- 3. [charged] 新生児痙攣の病因および予後 - uptodate [3]
- 4. [charged] 新生児てんかん症候群 - uptodate [4]
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- 関
- clonic seizure、convulse、convulsive、convulsive seizure、cramp、focal seizure、generalized seizure、Jacksonian seizure、jerk、motor seizure、seizure、sensory seizure、somatosensory seizure、spasm、spasticity、tonic seizure、tonic-clonic seizure
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- Mg2+存在下でC3, B, Dが反応してC3bBbとなり、これがC3転換酵素(C3bBb)あるいはC5転換酵素(C3bBb3b)を形成する。これらはP(properdin)と結合して活性化し、それぞれC3、C5を活性化する
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- 関
- depend、dependence、dependency、dependently