Mitochondrial DNA depletion syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Mitochondrial DNA depletion syndrome
Synonyms	MDDS
Pronounce	N/A
Specialty	N/A
Symptoms	Muscle weakness, hypotonia, liver failure, encephalopathy, seizures
Complications	N/A
Onset	Infancy or childhood
Duration	Chronic
Types	N/A
Causes	Mutations in genes involved in mitochondrial DNA maintenance
Risks	Family history of the condition
Diagnosis	Genetic testing, muscle biopsy, liver biopsy
Differential diagnosis	Other mitochondrial disorders, metabolic disorders
Prevention	N/A
Treatment	Supportive care, coenzyme Q10, carnitine, vitamin supplements
Medication	N/A
Prognosis	Variable, often poor
Frequency	Rare
Deaths	N/A

Mitochondrial DNA depletion syndrome (MDDS) is a group of autosomal recessive disorders that cause a significant reduction in mitochondrial DNA in affected tissues. The syndrome is characterized by a decrease in the amount of mitochondrial DNA, leading to a deficiency in the proteins needed for mitochondrial respiration.

Symptoms and Signs

The symptoms of MDDS can vary greatly depending on the specific type of the syndrome. However, common symptoms include muscle weakness, neurological problems, and liver disease. In severe cases, the syndrome can lead to organ failure and death.

Causes

MDDS is caused by mutations in various genes that are involved in the maintenance of mitochondrial DNA. These mutations lead to a decrease in the amount of mitochondrial DNA, which in turn leads to a deficiency in the proteins needed for mitochondrial respiration.

Diagnosis

The diagnosis of MDDS is based on the clinical symptoms, family history, and genetic testing. Genetic testing can identify the specific gene mutations that cause the syndrome.

Treatment

There is currently no cure for MDDS. Treatment is focused on managing the symptoms and improving the quality of life. This may include physical therapy for muscle weakness, medications for neurological problems, and liver transplantation for severe liver disease.

Prognosis

The prognosis for individuals with MDDS varies depending on the specific type of the syndrome and the severity of the symptoms. Some individuals may have a normal lifespan with proper management of symptoms, while others may have a shortened lifespan due to complications such as organ failure.

See Also

• Mitochondrial disease
• Genetic disorder
• Organ failure

References

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