KEGG   DISEASE: グルタミン合成の異常
エントリ  
H00923                                                             

名称    
グルタミン合成の異常
  上位グループ
二次性高アンモニア血症 [DS:H01400]
概要    
Congenital systemic glutamine deficiency (CSGD) is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported that glutamine was largely absent from affected patients serum, urine, and cerebrospinal fluid.
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  先天性アミノ酸代謝異常症
   H00923  グルタミン合成の異常
ICD-11 による疾患分類 [BR:jp08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00923  グルタミン合成の異常
関連パスウェイ
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00910  Nitrogen metabolism
hsa04724  Glutamatergic synapse
hsa04727  GABAergic synapse
病因遺伝子 
GLUL [HSA:2752] [KO:K01915]
リンク   
ICD-11: 5C50.Y
ICD-10: E72.8
MeSH: C536832
OMIM: 610015
文献    
  著者
Haberle J, Gorg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Haussinger D
  タイトル
Inborn error of amino acid synthesis: human glutamine synthetase deficiency.
  雑誌
J Inherit Metab Dis 29:352-8 (2006)
DOI:10.1007/s10545-006-0256-5
文献    
  著者
Rose C, Jalan R
  タイトル
Congenital glutamine deficiency with glutamine synthetase mutations.
  雑誌
N Engl J Med 354:1093-4; author reply 1093-4 (2006)
DOI:10.1056/NEJMc053332
LinkDB    

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