KEGG   DISEASE: ピルビン酸脱水素酵素複合体欠損症
エントリ  
H00072                                                             
名称    
ピルビン酸脱水素酵素複合体欠損症
  下位グループ
ピルビン酸脱水素酵素 E1α 欠損症 [DS:H01997]
ピルビン酸脱水素酵素 E1β 欠損症 [DS:H01998]
ピルビン酸脱水素酵素 E2 欠損症 [DS:H01999]
ジヒドロリポアミド脱水素酵素欠損症 [DS:H02000]
ピルビン酸脱水素酵素ホスファターゼ欠損症 [DS:H01996]
ピルビン酸脱水素酵素 E3 結合タンパク欠損症 [DS:H02003]
概要    
Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. This deficiency in newborns may lead to brain malformations. The PDH complex comprises three catalytic subunits, PDH (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase, together with a sixth component, E3-binding protein, which is believed to play a role in the attachment of E3 to the E2 core.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C53  エネルギー代謝の先天性異常
     H00072  ピルビン酸脱水素酵素複合体欠損症
パスウェイに基づく疾患分類 [BR:jp08402]
 糖質代謝
  nt06031  クエン酸回路とピルビン酸の代謝
   H00072  ピルビン酸脱水素酵素複合体欠損症
パスウェイ 
hsa00620  Pyruvate metabolism
hsa00010  Glycolysis / Gluconeogenesis
ネットワーク
nt06031 Citrate cycle and pyruvate metabolism
病因遺伝子 
(PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
リンク   
ICD-11: 5C53.02
MeSH: D015325
OMIM: 312170 614111 245348 608782 245349 246900
文献    
  著者
Robinson BH
  タイトル
Lactic acidemia and mitochondrial disease.
  雑誌
Mol Genet Metab 89:3-13 (2006)
DOI:10.1016/j.ymgme.2006.05.015
文献    
  著者
Pithukpakorn M
  タイトル
Disorders of pyruvate metabolism and the tricarboxylic acid cycle.
  雑誌
Mol Genet Metab 85:243-6 (2005)
DOI:10.1016/j.ymgme.2005.06.006
文献    
PMID:7853374
  著者
Brown GK, Otero LJ, LeGris M, Brown RM
  タイトル
Pyruvate dehydrogenase deficiency.
  雑誌
J Med Genet 31:875-9 (1994)
DOI:10.1136/jmg.31.11.875
文献    
  著者
Maj MC, Cameron JM, Robinson BH
  タイトル
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
  雑誌
Mol Cell Endocrinol 249:1-9 (2006)
DOI:10.1016/j.mce.2006.02.003
文献    
PMID:2537010 (PDHAD)
  著者
Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S
  タイトル
Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.
  雑誌
Am J Hum Genet 44:358-64 (1989)
文献    
PMID:15138885 (PDHBD)
  著者
Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK
  タイトル
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
  雑誌
Hum Genet 115:123-7 (2004)
DOI:10.1007/s00439-004-1124-8
文献    
PMID:16049940 (PDHDD)
  著者
Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK
  タイトル
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
  雑誌
Ann Neurol 58:234-41 (2005)
DOI:10.1002/ana.20550
文献    
PMID:15855260 (PDHPD)
  著者
Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM
  タイトル
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
  雑誌
J Clin Endocrinol Metab 90:4101-7 (2005)
DOI:10.1210/jc.2005-0123
文献    
PMID:9399911 (PDHXD)
  著者
Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Creau N, Kamoun P, Marsac C
  タイトル
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
  雑誌
Am J Hum Genet 61:1318-26 (1997)
DOI:10.1086/301653
文献    
PMID:8506365 (DLDD)
  著者
Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS
  タイトル
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
  雑誌
Proc Natl Acad Sci U S A 90:5186-90 (1993)
DOI:10.1073/pnas.90.11.5186
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