| H01022 | |
| H番号 | H01022 |
| 名称 | TCA回路の異常 |
| 概要 | Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate hydratase enzyme. The symptoms of the disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features. The succinate dehydrogenase deficiency [DS:H02005] affects mitochondrial complex II, which links the TCA cycle with the electron transport chain. The phenotype is highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised by encephalopathy and hyperlactatemia resulting in death in early childhood. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06031 Citrate cycle and pyruvate metabolism |
| 病因遺伝子 | (FMRD) FH [HSA:2271] [KO:K01679] (MC2DN1) SDHA [HSA:6389] [KO:K00234] (OGDHD) OGDH [HSA:4967] [KO:K00164] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Succinate dehydrogenase deficiency is also included in mitochondrial respiratory chain deficiencies. [DS:H00473] |
| リンク | ICD-11: 5C53.1 ICD-10: E88.8 MeSH: C538191 C565375 C536582 OMIM: 606812 252011 203740 |
| 文献 | PMID:21714867 著者 Smith AC, Robinson AJ タイトル A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle. 雑誌 BMC Syst Biol 5:102 (2011) DOI:10.1186/1752-0509-5-102 PMID:9300800 著者 Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A タイトル Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 雑誌 Biochim Biophys Acta 1361:185-97 (1997) DOI:10.1016/S0925-4439(97)00035-5 PMID:8200987 (FMRD) 著者 Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P タイトル Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. 雑誌 J Clin Invest 93:2514-8 (1994) DOI:10.1172/JCI117261 PMID:7550341 (MC2DN1) 著者 Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A, Rotig A タイトル Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 雑誌 Nat Genet 11:144-9 (1995) DOI:10.1038/ng1095-144 PMID:32383294 (OGDHD) 著者 Yap ZY, Strucinska K, Matsuzaki S, Lee S, Si Y, Humphries K, Tarnopolsky MA, Yoon WH タイトル A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease. 雑誌 J Inherit Metab Dis 44:388-400 (2021) DOI:10.1002/jimd.12248 |