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Learn About Mitochondrial Trifunctional Protein Deficiency

What is the definition of 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).

What are the causes of Mitochondrial Trifunctional Protein Deficiency?

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.

How prevalent is Mitochondrial Trifunctional Protein Deficiency?

Mitochondrial trifunctional protein deficiency is a rare disorder; its incidence is unknown.

Is Mitochondrial Trifunctional Protein Deficiency an inherited disorder?

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.

Who are the top Mitochondrial Trifunctional Protein Deficiency Local Doctors?

Mcv Associated Physicians

417 N 11th St, 
Richmond, VA 
 (242.6 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

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.

Neurology | Psychiatry
Neurology | Psychiatry

Mcv Associated Physicians

11958 W Broad St, 
Henrico, VA 
 (233.6 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

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.

 
 
 
 
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Family Medicine
Family Medicine
6530 Hull Street Rd, 
Richmond, VA 
 (237.5 mi)
Languages Spoken:
English

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.

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Who are the sources who wrote this article ?

Published Date: September 01, 2019
Published By: National Institutes of Health