Mitochondrial trifunctional protein deficiency
| Mitochondrial trifunctional protein deficiency | |
|---|---|
| Other names | TFP deficiency |
| Mitochondrial trifunctional protein deficiency has an autosomal recessive pattern of inheritance | |
| Symptoms | Cardiomyopathy, skeletal myopathy |
| Types | Mutations in the HADHA and HADHB gene |
| Diagnostic method | CBC, Urine test |
| Treatment | Low fat diet, Limited exercise |
Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food.
People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids.