Mitochondrial Trifunctional Protein Deficiency Overview
Learn About Mitochondrial Trifunctional Protein Deficiency
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
Mitochondrial trifunctional protein deficiency is a rare disorder; its incidence is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Mcv Associated Physicians
Kelly Gwathmey is a Neurologist in Richmond, Virginia. Dr. Gwathmey and is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Tissue Biopsy, and Gastrostomy. Dr. Gwathmey is currently accepting new patients.
Mcv Associated Physicians
Albert Smith is a Neurologist and a Psychiatrist in Henrico, Virginia. Dr. Smith and is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. His top areas of expertise are Drug Induced Dyskinesia, Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, and Myasthenia Gravis. Dr. Smith is currently accepting new patients.
Denise Way is a Family Medicine provider in Richmond, Virginia. Dr. Way and is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. Her top areas of expertise are Coenzyme Q Cytochrome C Reductase Deficiency, Mitochondrial Complex 2 Deficiency, Mitochondrial Complex 3 Deficiency, and Mitochondrial Complex 1 Deficiency.
Published Date: September 01, 2019
Published By: National Institutes of Health