Mitochondrial trifunctional protein deficiency: What Patients Should Know
By Dr. Maya Hall, MD · · Endocrinology and Metabolism
Patients often ask us about mitochondrial trifunctional protein deficiency. Here is what our Endocrinology and Metabolism clinicians want you to know.
About this topic
Topic: mitochondrial trifunctional protein deficiency. A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
Mentioned in this article
Related care
- antiherpetic agent therapy
- diuretic agent therapy
- MRI of the adrenal gland
- magnetic resonance spectroscopy
Always talk with your care team before making decisions about your health. This content is educational only.