| H01352 | |
| H number | H01352 |
| Name | Mitochondrial trifunctional protein deficiency |
| Description | 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. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | nt06020(H01352) beta-Oxidation in mitochondria |
| Gene | (MTPD1) HADHA [HSA:3030] [KO:K07515] (MTPD2) HADHB [HSA:3032] [KO:K07509] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C52.01 ICD-10: E71.3 MeSH: C566945 OMIM: 609015 620300 |
| Reference | PMID:14630990 AUTHORS Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW TITLE 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. JOURNAL Pediatr Res 55:190-6 (2004) DOI:10.1203/01.PDR.0000103931.80055.06 PMID:23868323 AUTHORS Liewluck T, Mundi MS, Mauermann ML TITLE Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis. JOURNAL Muscle Nerve 48:989-91 (2013) DOI:10.1002/mus.23959 PMID:12621125 AUTHORS Jones PM, Butt Y, Bennett MJ TITLE 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. JOURNAL Pediatr Res 53:783-7 (2003) DOI:10.1203/01.PDR.0000059748.67987.1F PMID:9739053 (MTPD1) AUTHORS Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, Wanders RJ, Strauss AW TITLE Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. JOURNAL J Clin Invest 102:1193-9 (1998) DOI:10.1172/JCI2091 PMID:8651282 (MTPD2) AUTHORS Ushikubo S, Aoyama T, Kamijo T, Wanders RJ, Rinaldo P, Vockley J, Hashimoto T TITLE Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. JOURNAL Am J Hum Genet 58:979-88 (1996) |