| Mitochondrial trifunctional protein deficiency | |
|---|---|
| Other names | TFP deficiency[1] |
 | |
| Mitochondrial trifunctional protein deficiency has an autosomal recessive pattern of inheritance | |
| Symptoms | Cardiomyopathy, skeletal myopathy [2] |
| Types | Mutations in the HADHA and HADHB gene[2] |
| Diagnostic method | CBC, Urine test[3] |
| Treatment | Low fat diet, Limited exercise[3] |
Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder[4] that prevents the body from converting certain fats to energy, particularly during periods without food.[5][6]
People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids.[6]
- ^ "Mitochondrial trifunctional protein deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 31 July 2019. Retrieved 31 July 2019.
- ^ a b Cite error: The named reference
garwas invoked but never defined (see the help page). - ^ a b Cite error: The named reference
orpwas invoked but never defined (see the help page). - ^ Solish JO, Singh RH (2002). "Management of fatty acid oxidation disorders: a survey of current treatment strategies". J Am Diet Assoc. 102 (12): 1800–1803. doi:10.1016/S0002-8223(02)90386-X. PMID 12487544.subscription needed
- ^ "OMIM Entry - # 609015 - MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD". omim.org. Archived from the original on 2017-05-10. Retrieved 2016-11-05.
- ^ a b Reference, Genetics Home. "mitochondrial trifunctional protein deficiency". Genetics Home Reference. Archived from the original on 2020-04-04. Retrieved 2016-10-28.