Mitochondrial Complex 3 Deficiency
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Mitochondrial Complex 3 Deficiency Overview

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What is the definition of Mitochondrial Complex 3 Deficiency?
Mitochondrial complex III deficiency is one of several conditions caused by dysfunction of mitochondria, which are specialized compartments in cells that generate more than 90% of the energy required by the body. It is a severe, multisystem disorder that includes features such as lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Involvement of internal organs, including liver disease and renal tubulopathy, may also occur. Symptoms typically begin at birth. It is generally caused by genetic changes in nuclear DNA in the BCS1L, UQCRB and UQCRQ genes and inherited in an autosomal recessive manner. However, it may also be caused by genetic changes in mitochondrial DNA in the MTCYB gene, which is passed down maternally or occurs sporadically and may result in a milder form of the condition.
What are the alternative names for Mitochondrial Complex 3 Deficiency?
  • Mitochondrial complex III deficiency
  • Complex 3 mitochondrial respiratory chain deficiency
Who are the top Mitochondrial Complex 3 Deficiency Local Doctors?
Experienced in Mitochondrial Complex 3 Deficiency
Dr. Christopher D. Lee
Neurology
Experienced in Mitochondrial Complex 3 Deficiency
Dr. Christopher D. Lee
Neurology

Vanderbilt Medical Group- Teleneurology

1161 21st Ave South, A-0118 Medical Center North, 
Nashville, TN 
615-936-0060
Languages Spoken:
English
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. Dr. Lee is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Complex 3 Deficiency. His top areas of expertise are Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Guillain-Barre Syndrome, and Gamma Knife Radiosurgery.

Distinguished in Mitochondrial Complex 3 Deficiency
Dr. Eroboghene Ubogu
Neurology
Distinguished in Mitochondrial Complex 3 Deficiency
Dr. Eroboghene Ubogu
Neurology

Office

1720 7th Ave S, 
Birmingham, AL 
205-934-2120
Languages Spoken:
English
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Eroboghene Ubogu is a Neurologist in Birmingham, Alabama. Dr. Ubogu is rated as a Distinguished provider by MediFind in the treatment of Mitochondrial Complex 3 Deficiency. His top areas of expertise are Chronic Inflammatory Demyelinating Polyneuropathy, Guillain-Barre Syndrome, Coenzyme Q Cytochrome C Reductase Deficiency, and Mitochondrial Complex 1 Deficiency.

 
 
 
 
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John G. Hoffman
Experienced in Mitochondrial Complex 3 Deficiency
Dr. John G. Hoffman
Family Medicine
Experienced in Mitochondrial Complex 3 Deficiency
Dr. John G. Hoffman
Family Medicine

Texas Health Family Care

2730 SW Wilshire Boulevard, 
Burleson, TX 
817-916-5180
Languages Spoken:
English
See accepted insurances

John Hoffman is a primary care provider, practicing in Family Medicine in Burleson, Texas. Dr. Hoffman is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Complex 3 Deficiency. His top areas of expertise are High Cholesterol, Familial Combined Hyperlipidemia, Xanthoma, and Glucocorticoid-Remediable Aldosteronism.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center