| H00190 | |
| H番号 | H00190 |
| 名称 | 高プロリン血症 |
| 概要 | Hyperprolinemia (HP) is a phenotype present in two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) are caused by deficiencies in proline dehydrogenase (PRODH) and P5C dehydrogenase (P5CDH; also known as ALDH4A1), respectively. Patients with HPI may exhibit an increase in plasma proline level in absence of urinary pyrroline-5-carboxylate (P5C) while those with HPII have elevated levels of P5C and proline in plasma, urine, and cerebrospinal fluid. Some patients have neurological, renal, and/or auditory defects. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06033 Glycine, serine and arginine metabolism |
| 病因遺伝子 | (HYRPRO1) PRODH [HSA:5625] [KO:K00318] (HYRPRO2) ALDH4A1 [HSA:8659] [KO:K00294] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.8 ICD-10: E72.5 MeSH: C538384 C538385 OMIM: 239500 239510 |
| 文献 | PMID:18806117 著者 Mitsubuchi H, Nakamura K, Matsumoto S, Endo F タイトル Inborn errors of proline metabolism. 雑誌 J Nutr 138:2016S-2020S (2008) DOI:10.1093/jn/138.10.2016S PMID:20524212 著者 Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafe L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D タイトル Type I hyperprolinemia: genotype/phenotype correlations. 雑誌 Hum Mutat 31:961-5 (2010) DOI:10.1002/humu.21296 PMID:15214748 著者 Onenli-Mungan N, Yuksel B, Elkay M, Topaloglu AK, Baykal T, Ozer G タイトル Type II hyperprolinemia: a case report. 雑誌 Turk J Pediatr 46:167-9 (2004) PMID:22516612 著者 Srivastava D, Singh RK, Moxley MA, Henzl MT, Becker DF, Tanner JJ タイトル The Three-Dimensional Structural Basis of Type II Hyperprolinemia. 雑誌 J Mol Biol 420:176-89 (2012) DOI:10.1016/j.jmb.2012.04.010 PMID:21882227 著者 Ferreira AG, da Cunha AA, Machado FR, Pederzolli CD, Dalazen GR, de Assis AM, Lamers ML, dos Santos MF, Dutra-Filho CS, Wyse AT タイトル Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. 雑誌 J Cell Biochem 113:174-83 (2012) DOI:10.1002/jcb.23342 PMID:12217952 (HYRPRO1) 著者 Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T タイトル PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. 雑誌 Hum Mol Genet 11:2243-9 (2002) DOI:10.1093/hmg/11.19.2243 PMID:9700195 (HYRPRO2) 著者 Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA タイトル Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 雑誌 Hum Mol Genet 7:1411-5 (1998) DOI:10.1093/hmg/7.9.1411 |