Mitochondrial complex II deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Mitochondrial complex II deficiency | |||
| image = [[File:SuccDeh.svg|250px]] | |||
| caption = Diagram of succinate dehydrogenase, a key component of complex II | |||
| synonyms = Succinate dehydrogenase deficiency | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Muscle weakness]], [[hypotonia]], [[encephalopathy]], [[cardiomyopathy]], [[seizures]] | |||
| onset = [[Infancy]] or [[childhood]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in [[SDHA]], [[SDHB]], [[SDHC]], [[SDHD]] genes | |||
| risks = [[Genetic predisposition]] | |||
| diagnosis = [[Genetic testing]], [[muscle biopsy]], [[metabolic testing]] | |||
| differential = [[Leigh syndrome]], [[Mitochondrial complex I deficiency]] | |||
| treatment = [[Supportive care]], [[vitamin supplementation]] | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
}} | |||
{{Short description|Overview of Mitochondrial Complex II Deficiency}} | {{Short description|Overview of Mitochondrial Complex II Deficiency}} | ||
'''Mitochondrial Complex II Deficiency''' is a rare [[metabolic disorder]] that affects the function of [[mitochondria]], the energy-producing structures within cells. This condition is characterized by a deficiency in the activity of [[Complex II]], also known as succinate dehydrogenase (SDH), which is part of the [[electron transport chain]] in mitochondria. | '''Mitochondrial Complex II Deficiency''' is a rare [[metabolic disorder]] that affects the function of [[mitochondria]], the energy-producing structures within cells. This condition is characterized by a deficiency in the activity of [[Complex II]], also known as succinate dehydrogenase (SDH), which is part of the [[electron transport chain]] in mitochondria. | ||
=== Pathophysiology === | === Pathophysiology === | ||
Complex II is unique among the complexes of the electron transport chain because it is the only one that participates in both the [[citric acid cycle]] and the electron transport chain. It catalyzes the oxidation of [[succinate]] to [[fumarate]] and transfers electrons to [[ubiquinone]]. A deficiency in Complex II disrupts this process, leading to impaired energy production and an accumulation of metabolic intermediates. | Complex II is unique among the complexes of the electron transport chain because it is the only one that participates in both the [[citric acid cycle]] and the electron transport chain. It catalyzes the oxidation of [[succinate]] to [[fumarate]] and transfers electrons to [[ubiquinone]]. A deficiency in Complex II disrupts this process, leading to impaired energy production and an accumulation of metabolic intermediates. | ||
=== Clinical Presentation === | === Clinical Presentation === | ||
Patients with mitochondrial complex II deficiency may present with a variety of symptoms, which can include [[muscle weakness]], [[hypotonia]], [[developmental delay]], and [[failure to thrive]]. The severity and range of symptoms can vary widely among affected individuals. | Patients with mitochondrial complex II deficiency may present with a variety of symptoms, which can include [[muscle weakness]], [[hypotonia]], [[developmental delay]], and [[failure to thrive]]. The severity and range of symptoms can vary widely among affected individuals. | ||
=== Genetic Basis === | === Genetic Basis === | ||
Mitochondrial complex II deficiency is often caused by mutations in one of the four nuclear genes that encode the subunits of succinate dehydrogenase: SDHA, SDHB, SDHC, and SDHD. These mutations can be inherited in an [[autosomal recessive]] manner. | Mitochondrial complex II deficiency is often caused by mutations in one of the four nuclear genes that encode the subunits of succinate dehydrogenase: SDHA, SDHB, SDHC, and SDHD. These mutations can be inherited in an [[autosomal recessive]] manner. | ||
=== Diagnosis === | === Diagnosis === | ||
Diagnosis of mitochondrial complex II deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may show reduced activity of succinate dehydrogenase in muscle or liver tissue samples. | Diagnosis of mitochondrial complex II deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may show reduced activity of succinate dehydrogenase in muscle or liver tissue samples. | ||
=== Treatment === | === Treatment === | ||
Currently, there is no cure for mitochondrial complex II deficiency. Treatment is primarily supportive and may include nutritional supplements, physical therapy, and management of symptoms. Research into potential therapies is ongoing. | Currently, there is no cure for mitochondrial complex II deficiency. Treatment is primarily supportive and may include nutritional supplements, physical therapy, and management of symptoms. Research into potential therapies is ongoing. | ||
== See Also == | |||
== | |||
* [[Mitochondrial disease]] | * [[Mitochondrial disease]] | ||
* [[Electron transport chain]] | * [[Electron transport chain]] | ||
* [[Succinate dehydrogenase]] | * [[Succinate dehydrogenase]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
[[Category:Mitochondrial diseases]] | [[Category:Mitochondrial diseases]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
Latest revision as of 07:06, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Mitochondrial complex II deficiency | |
|---|---|
| |
| Synonyms | Succinate dehydrogenase deficiency |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Muscle weakness, hypotonia, encephalopathy, cardiomyopathy, seizures |
| Complications | N/A |
| Onset | Infancy or childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in SDHA, SDHB, SDHC, SDHD genes |
| Risks | Genetic predisposition |
| Diagnosis | Genetic testing, muscle biopsy, metabolic testing |
| Differential diagnosis | Leigh syndrome, Mitochondrial complex I deficiency |
| Prevention | N/A |
| Treatment | Supportive care, vitamin supplementation |
| Medication | N/A |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Overview of Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency is a rare metabolic disorder that affects the function of mitochondria, the energy-producing structures within cells. This condition is characterized by a deficiency in the activity of Complex II, also known as succinate dehydrogenase (SDH), which is part of the electron transport chain in mitochondria.
Pathophysiology[edit]
Complex II is unique among the complexes of the electron transport chain because it is the only one that participates in both the citric acid cycle and the electron transport chain. It catalyzes the oxidation of succinate to fumarate and transfers electrons to ubiquinone. A deficiency in Complex II disrupts this process, leading to impaired energy production and an accumulation of metabolic intermediates.
Clinical Presentation[edit]
Patients with mitochondrial complex II deficiency may present with a variety of symptoms, which can include muscle weakness, hypotonia, developmental delay, and failure to thrive. The severity and range of symptoms can vary widely among affected individuals.
Genetic Basis[edit]
Mitochondrial complex II deficiency is often caused by mutations in one of the four nuclear genes that encode the subunits of succinate dehydrogenase: SDHA, SDHB, SDHC, and SDHD. These mutations can be inherited in an autosomal recessive manner.
Diagnosis[edit]
Diagnosis of mitochondrial complex II deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may show reduced activity of succinate dehydrogenase in muscle or liver tissue samples.
Treatment[edit]
Currently, there is no cure for mitochondrial complex II deficiency. Treatment is primarily supportive and may include nutritional supplements, physical therapy, and management of symptoms. Research into potential therapies is ongoing.
