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Mitochondrial trifunctional protein deficiency
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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]
Quick Facts Other names, Symptoms ...
Mitochondrial trifunctional protein deficiency | |
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Other names | TFP deficiency[1] |
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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] |
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