Mitochondrial Trifunctional Protein Deficiency
Mitochondrial Trifunctional Protein Deficiency Causes
The disorder may manifest during infancy or late in life. The patient may suffer attacks which are triggered by fasting or a viral infection.
Mitochondrial Trifunctional Protein Deficiency Definition
Mitochondrial trifunctional protein deficiency is a disorder that prevents certain fats in the body to convert to energy, specifically during periods of no food.
Mitochondrial Trifunctional Protein Deficiency Diagnosis
Mitochondrial trifunctional protein deficiency is diagnosed and confirmed through tandem mass spectrometry.
Mitochondrial Trifunctional Protein Deficiency Symptoms and Signs
Early signs of the disorder include feeding difficulties, lethargy, low blood sugar, weakness of muscles, and problems of the liver. The patient may also be a high risk for life-threatening incidents that could lead to coma and sudden death. If the disorder manifests in the later stage of an individual's life, the symptoms are less. The person may experience hypotonia, muscle pain, muscle tissue breakdown, and suffer abnormalities in the nervous system affecting the arms and legs.