Mitochondrial Complex 3 Deficiency Overview

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Learn About Mitochondrial Complex 3 Deficiency

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?
Distinguished in Mitochondrial Complex 3 Deficiency
Dr. Andrea J. Swenson
Neurology
Distinguished in Mitochondrial Complex 3 Deficiency
Dr. Andrea J. Swenson
Neurology

State University Of Iowa

200 Hawkins Dr, 
Iowa City, IA 
319-356-1616
Languages Spoken:
English
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Accepting New Patients

Andrea Swenson is a Neurologist in Iowa City, Iowa. Dr. Swenson is rated as a Distinguished provider by MediFind in the treatment of Mitochondrial Complex 3 Deficiency. Her top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Myasthenia Gravis, Spinal Muscular Atrophy (SMA), and Rhizotomy. Dr. Swenson is currently accepting new patients.

Shruti M. Raja
Advanced in Mitochondrial Complex 3 Deficiency
Dr. Shruti M. Raja
Neurology
Advanced in Mitochondrial Complex 3 Deficiency
Dr. Shruti M. Raja
Neurology

Duke Electromyography Laboratory - Clinic 1L

40 Duke Medicine Cir, 
Durham, NC 
919-684-5422
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Shruti Raja is a Neurologist in Durham, North Carolina. Dr. Raja is rated as an Advanced provider by MediFind in the treatment of Mitochondrial Complex 3 Deficiency. Her top areas of expertise are Myasthenia Gravis, Lambert-Eaton Syndrome, Mitochondrial Complex 1 Deficiency, Mitochondrial Complex 2 Deficiency, and Thymectomy. Dr. Raja is currently accepting new patients.

 
 
 
 
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Sarah S. Hartung
Experienced in Mitochondrial Complex 3 Deficiency
Dr. Sarah S. Hartung
Family Medicine
Experienced in Mitochondrial Complex 3 Deficiency
Dr. Sarah S. Hartung
Family Medicine

Duke Primary Care Waverly Place

540 New Waverly Pl, 
Cary, NC 
919-954-4159
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Sarah Hartung is a primary care provider, practicing in Family Medicine in Cary, North Carolina. Dr. Hartung is rated as an Experienced provider by MediFind in the treatment of Mitochondrial Complex 3 Deficiency. Her top areas of expertise are Familial Hypertension, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Maturity Onset Diabetes of the Young. Dr. Hartung is currently accepting new patients.

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