Mitochondrial Trifunctional Protein DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
Sarah Grunert practices practicing medicine in Freiburg, Germany. Ms. Grunert is rated as an Elite expert by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Mitochondrial Trifunctional Protein Deficiency, Glycogen Storage Disease Type 6, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.
OSF Illinois Neurological Institute - Neurology
Gregory Blume is a Neurologist practicing medicine in Peoria, Illinois. Dr. Blume is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Paramyotonia Congenita, Myotonic Dystrophy Type 2, and Myotonic Dystrophy. Dr. Blume is board certified in American Board Of Psychiatry And Neurology.
Vanderbilt Medical Group- Teleneurology
Christopher Lee is a Neurologist practicing medicine in Nashville, Tennessee. Dr. Lee is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Trifunctional Protein Deficiency. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Guillain-Barre Syndrome, and Gamma Knife Radiosurgery. Dr. Lee is board certified in American Board Of Psychiatry & Neurology.
Published Date: September 01, 2019
Published By: National Institutes of Health