| H01352 | |
| H番号 | H01352 |
| 名称 | 三頭酵素欠損症 |
| 概要 | Mitochondrial trifunctional protein (TFP) deficiency is a rare autosomal recessive disorder that is caused by mutations in HADHA and HADHB. TFP is a multienzyme complex of the fatty acid beta-oxidation cycle. Human TFP is an octamer composed of four alpha-subunits harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits encoding long-chain 3-ketoacyl-CoA thiolase (LCKAT). This disease includes a lethal neonatal phenotype with cardiomyopathy and Reye-like syndrome, an infantile hepatic phenotype with recurrent hypoketotic hypoglycemia, and a childhood or adolescent-onset neuromyopathic phenotype with peripheral neuropathy and recurrent rhabdomyolysis. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | nt06020(H01352) beta-Oxidation in mitochondria |
| 病因遺伝子 | (MTPD1) HADHA [HSA:3030] [KO:K07515] (MTPD2) HADHB [HSA:3032] [KO:K07509] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C52.01 ICD-10: E71.3 MeSH: C566945 OMIM: 609015 620300 |
| 文献 | PMID:14630990 著者 Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW タイトル General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. 雑誌 Pediatr Res 55:190-6 (2004) DOI:10.1203/01.PDR.0000103931.80055.06 PMID:23868323 著者 Liewluck T, Mundi MS, Mauermann ML タイトル Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis. 雑誌 Muscle Nerve 48:989-91 (2013) DOI:10.1002/mus.23959 PMID:12621125 著者 Jones PM, Butt Y, Bennett MJ タイトル Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency. 雑誌 Pediatr Res 53:783-7 (2003) DOI:10.1203/01.PDR.0000059748.67987.1F PMID:9739053 (MTPD1) 著者 Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, Wanders RJ, Strauss AW タイトル Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. 雑誌 J Clin Invest 102:1193-9 (1998) DOI:10.1172/JCI2091 PMID:8651282 (MTPD2) 著者 Ushikubo S, Aoyama T, Kamijo T, Wanders RJ, Rinaldo P, Vockley J, Hashimoto T タイトル Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. 雑誌 Am J Hum Genet 58:979-88 (1996) |