KEGG   DISEASE: リボース 5-リン酸イソメラーゼ欠損症
エントリ  
H01135                                                             
名称    
リボース 5-リン酸イソメラーゼ欠損症
概要    
Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral neuropathy. Systematic metabolic profiling identified elevated levels of arabitol and ribitol in affected brain regions and body fluids. RPI gene-sequence analysis revealed a frameshift and a missense mutation.
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
    5C51  糖質代謝の先天性異常
     H01135  リボース 5-リン酸イソメラーゼ欠損症
パスウェイ 
hsa01230  Biosynthesis of amino acids
hsa00030  Pentose phosphate pathway
病因遺伝子 
RPIA [HSA:22934] [KO:K01807]
リンク   
ICD-11: 5C51.0
MeSH: C563212
OMIM: 608611
文献    
  著者
Wamelink MM, Gruning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M
  タイトル
The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.
  雑誌
J Mol Med (Berl) 88:931-9 (2010)
DOI:10.1007/s00109-010-0634-1
文献    
  著者
Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS
  タイトル
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
  雑誌
Am J Hum Genet 74:745-51 (2004)
DOI:10.1086/383204
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