| H00668 | |
| H番号 | H00668 |
| 名称 | グルタチオン代謝障害による貧血 |
| 概要 | Anemia due to disorders of glutathione metabolism is a group of red cell disorders caused by inherited abnormality of enzymes of glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans. GCLC catalyzes the initial and the rate-limiting step of glutathione synthesis. Deficiency of GCLC is extremely rare. GSS deficiency is a more frequent cause of glutathione deficiency. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06026 Glutathione biosynthesis nt06525(H00668) Ferroptosis |
| 病因遺伝子 | G6PD [HSA:2539] [KO:K00036] GPX1 [HSA:2876] [KO:K00432] GCLC [HSA:2729] [KO:K11204] GSS [HSA:2937] [KO:K21456] GSR [HSA:2936] [KO:K00383] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A10.0 ICD-10: D55.0 D55.1 MeSH: D005955 C564217 C565557 C536835 OMIM: 300908 614164 230450 231900 618660 |
| 文献 | PMID:8634459 著者 Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S タイトル Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. 雑誌 Blood 87:2071-4 (1996) PMID:21852236 (GPX1) 著者 Lubos E, Kelly NJ, Oldebeken SR, Leopold JA, Zhang YY, Loscalzo J, Handy DE タイトル Glutathione Peroxidase-1 Deficiency Augments Proinflammatory Cytokine-induced Redox Signaling and Human Endothelial Cell Activation. 雑誌 J Biol Chem 286:35407-17 (2011) DOI:10.1074/jbc.M110.205708 PMID:10515893 (GCLC) 著者 Beutler E, Gelbart T, Kondo T, Matsunaga AT タイトル The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. 雑誌 Blood 94:2890-4 (1999) PMID:15717202 (GSS) 著者 Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S タイトル Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. 雑誌 Hum Genet 116:384-9 (2005) DOI:10.1007/s00439-005-1255-6 PMID:17185460 (GSR) 著者 Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D タイトル Molecular basis of glutathione reductase deficiency in human blood cells. 雑誌 Blood 109:3560-6 (2007) DOI:10.1182/blood-2006-08-042531 |