先天性ピルビン酸代謝異常

WordNet

(baseball) a failure of a defensive player to make an out when normal play would have sufficed (同)misplay
departure from what is ethically acceptable (同)wrongdoing
(computer science) the occurrence of an incorrect result produced by a computer (同)computer error
a misconception resulting from incorrect information (同)erroneous belief
part of a statement that is not correct; "the book was full of errors" (同)mistake
to make a mistake or be incorrect (同)mistake, slip
the organic processes (in a cell or organism) that are necessary for life (同)metabolic_process

PrepTutorEJDIC

《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
〈C〉『誤り』,『まちがい』 / 〈U〉思い違い,誤解 / 〈U〉〈C〉過ち,過失 / 〈U〉(計数の)誤差 / 〈C〉(野球で)エラー,失策
(判断・考え方・選択などで)『誤る』,まちがえる;過ちを犯す,罪を犯す《+『in』+『名』(do『ing』)》 / (正道・目的などから)それる,逸脱する《+『from』+『名』》
新陳代謝,物質交代
生まれつきの,先天的な

UpToDate Contents

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1. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
2. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
4. 遺伝性運動失調の概要 overview of the hereditary ataxias
5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn

English Journal

An impaired respiratory electron chain triggers down-regulation of the energy metabolism and de-ubiquitination of solute carrier amino acid transporters.

Gielisch I1, Hardt C1, Wittig I2, Meierhofer D3.
Molecular & cellular proteomics : MCP.Mol Cell Proteomics.2016 Feb 6. pii: mcp.M115.053181. [Epub ahead of print]
Hundreds of genes have been associated with respiratory chain disease (RCD), the most common inborn error of metabolism so far. Elimination of the respiratory electron chain by depleting the entire mitochondrial DNA (mtDNA, rho0 cells) has therefore one of the most severe impacts on the energy metab
PMID 26852163

Saccharomyces cerevisiae Forms D-2-Hydroxyglutarate and Couples its Degradation to D-Lactate Formation via a Cytosolic Transhydrogenase.

Becker-Kettern J1, Paczia N1, Conrotte JF1, Kay DP1, Guignard C2, Jung PP1, Linster CL3.
The Journal of biological chemistry.J Biol Chem.2016 Jan 16. pii: jbc.M115.704494. [Epub ahead of print]
The D or L form of 2-hydroxyglutarate (2HG) accumulates in certain rare neurometabolic disorders and high D-2HG levels are also found in several types of cancer. Although 2HG has been detected in Saccharomyces cerevisiae, its metabolism in yeast has remained largely unexplored. Here we show that S.
PMID 26774271

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Ortigoza-Escobar JD1, Molero-Luis M2, Arias A3, Oyarzabal A4, Darín N5, Serrano M6, Garcia-Cazorla A6, Tondo M2, Hernández M2, Garcia-Villoria J3, Casado M7, Gort L3, Mayr JA8, Rodríguez-Pombo P9, Ribes A3, Artuch R7, Pérez-Dueñas B10.
Brain : a journal of neurology.Brain.2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10.
Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic in
PMID 26657515