| H00192 | |
| H番号 | H00192 |
| 名称 | キサンチン尿症 |
| 概要 | Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with XAN1 lack only xanthine dehydrogenase/xanthine oxidase (XDH/XO) activity, while patients with type II lack both XDH/XO and aldehyde oxidase activities. It has been suggested that the mutation in the molybdenum cofactor sulfurase gene is responsible for XAN2. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06025 Molybdenum cofactor biosynthesis |
| 病因遺伝子 | (XAN1) XDH [HSA:7498] [KO:K00106] (XAN2) MOCOS [HSA:55034] [KO:K15631] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C55.00 ICD-10: E79.9 MeSH: C562584 C566358 OMIM: 278300 603592 |
| 文献 | PMID:29723117 著者 Sebesta I, Stiburkova B, Krijt J タイトル Hereditary xanthinuria is not so rare disorder of purine metabolism. 雑誌 Nucleosides Nucleotides Nucleic Acids 37:324-328 (2018) DOI:10.1080/15257770.2018.1460478 PMID:9153281 (XDH) 著者 Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O タイトル Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 雑誌 J Clin Invest 99:2391-7 (1997) DOI:10.1172/JCI119421 PMID:10844591 (XDH) 著者 Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H タイトル XDH gene mutation is the underlying cause of classical xanthinuria: a second report. 雑誌 Kidney Int 57:2215-20 (2000) DOI:10.1046/j.1523-1755.2000.00082.x PMID:14624414 (MOCOS) 著者 Yamamoto T, Moriwaki Y, Takahashi S, Tsutsumi Z, Tuneyoshi K, Matsui K, Cheng J, Hada T タイトル Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. 雑誌 Metabolism 52:1501-4 (2003) DOI:10.1016/S0026-0495(03)00272-5 |