KEGG   DISEASE: ピルビン酸脱水素酵素ホスファターゼ欠損症
エントリ  
H01996                                                             
名称    
ピルビン酸脱水素酵素ホスファターゼ欠損症
  上位グループ
ピルビン酸脱水素酵素複合体欠損症 [DS:H00072]
概要    
Pyruvate dehydrogenase phosphatase (PDP) deficiency has previously been confirmed only in a few cases. PDP is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported that the mutations in PDP1 gene result in lactic acidemia, progressive neurodegeneration, and seizure activity, culminating in early death.
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
     H01996  ピルビン酸脱水素酵素ホスファターゼ欠損症
病因遺伝子 
PDP1 [HSA:54704] [KO:K01102]
リンク   
ICD-11: 5C53.02
MeSH: C536258
OMIM: 608782
文献    
PMID:16574315
  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:19184109
  著者
Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH
  タイトル
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
  雑誌
Hum Genet 125:319-26 (2009)
DOI:10.1007/s00439-009-0629-6
文献    
PMID:15855260
  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
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