KEGG   DISEASE: 高トリプトファン血症
エントリ  
H02545                                                             
名称    
高トリプトファン血症
概要    
Hypertryptophanemia (HYPTRP) is a rare inherited metabolic disorder caused by congenital defects of tryptophan metabolism. Tryptophan is a precursor to the neurotransmitters serotonin and melatonin. It has been described that some patients had growth and developmental delay, ataxia, and photosensitive skin rash. Recently, HYPTRP due to tryptophan 2,3-dioxygenase deficiency has been reported.
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
    5C50  アミノ酸または他の有機酸代謝の先天性異常
     H02545  高トリプトファン血症
パスウェイ 
hsa00380  Tryptophan metabolism
hsa01240  Biosynthesis of cofactors
病因遺伝子 
(HYPTRP) TDO2 [HSA:6999] [KO:K00453]
リンク   
ICD-11: 5C50.3
MeSH: C563467
OMIM: 600627
文献    
PMID:6883719
  著者
Snedden W, Mellor CS, Martin JR
  タイトル
Familial hypertryptophanemia, tryptophanuria and indoleketonuria.
  雑誌
Clin Chim Acta 131:247-56 (1983)
DOI:10.1016/0009-8981(83)90094-3
文献    
PMID:28285122 (HYPTRP)
  著者
Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, Liu F, Liu A
  タイトル
Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.
  雑誌
Mol Genet Metab 120:317-324 (2017)
DOI:10.1016/j.ymgme.2017.02.009
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