mitochondrial DNA depletion syndrome 17

Mitochondrial DNA depletion syndrome 17 (MPV17-related hepatocerebral mitochondrial DNA depletion syndrome) is an inherited disorder that can cause liver disease and neurological problems.

This condition is characterized by a severe decrease in the amount of mitochondrial DNA, which leads to impaired energy production in affected tissues and organs. The symptoms can vary depending on the severity and location of the mitochondrial DNA depletion, but they often include:

• Liver disease (hepatopathy)
• Neurological problems (encephalomyopathy), such as seizures, muscle weakness, and cognitive impairment
• Other systemic complications, including myopathic features

The disorder is caused by mutations in the MPV17 gene, which codes for a protein involved in mitochondrial DNA maintenance. The symptoms typically begin in childhood and can progress rapidly.

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Mitochondrial DNA Depletion Syndrome (MDDS) 17 Signs and Symptoms

Mitochondrial DNA depletion syndrome 17, also known as Alpers' syndrome, is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells. The signs and symptoms of MDDS 17 can vary in severity and type, but often include:

• Progressive muscle weakness: Affected individuals may experience progressive muscle weakness, which can lead to loss of motor function [8].
• Liver disease: Liver dysfunction is a common feature of MDDS 17, with symptoms such as jaundice and encephalopathy [2].
• Neurological problems: Individuals with MDDS 17 may also develop neurological problems, including stroke-like episodes, myoclonus (involuntary muscle contractions), choreoathetosis (abnormal movements), parkinsonism, nystagmus (rapid eye movements), somnolence (excessive sleepiness), irritability, and loss of appetite [3][5].
• Growth failure: Affected individuals may experience growth failure, with symptoms such as vomiting, diarrhea, and an inability to grow or gain weight at the expected rate [1][8].

It's essential to note that the type and severity of symptoms can vary depending on the specific gene affected. In some cases, the main clinical feature is progressive muscle weakness, while in others, liver disease or neurological problems may be more prominent.

References: [1] Context result 1: Jan 1, 2013 — The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate... [2] Context result 2: Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. [3] Context result 3: Affected individuals may also develop stroke and stroke-like episodes, myoclonus, choreoathetosis, parkinsonism, nystagmus, somnolence, irritability, loss of appetite... [5] Context result 5: Affected individuals may also develop stroke and stroke-like episodes, myoclonus, choreoathetosis, parkinsonism, nystagmus, somnolence, irritability, loss of appetite... [8] Context result 8: The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate...

Diagnostic Tests for Mitochondrial DNA Depletion Syndrome

Mitochondrial DNA depletion syndrome (MDDS) is a rare genetic disorder characterized by the depletion of mitochondrial DNA, leading to impaired energy production in cells. Diagnosing MDDS can be challenging, but several diagnostic

Current Treatment Options for Mitochondrial DNA Depletion Syndrome

Mitochondrial DNA depletion syndrome (MDDS) is a rare genetic disorder characterized by the depletion of mitochondrial DNA, leading to impaired energy production in cells. While there are no specific treatments available for MDDS, researchers have been exploring various therapeutic

Mitochondrial DNA depletion syndrome (MPV17) is a rare genetic disorder characterized by a significant reduction in the amount of mitochondrial DNA, leading to impaired cellular energy production. The differential diagnosis for MPV17-related mtDNA maintenance defect involves considering other hepatocerebral mitochondrial depletion syndromes.

Other conditions to consider:

• POLG mutations: Mutations in the POLG gene can also cause mitochondrial DNA depletion syndrome, which affects the liver and nervous system [6].
• TWNK mutations: TWNK gene mutations are another cause of mitochondrial DNA depletion syndrome, leading to severe hepatocerebral symptoms [6].
• Other mitochondrial disorders: A broad differential diagnosis for mitochondrial DNA depletion syndromes should be undertaken by a multidisciplinary team, considering other mitochondrial disorders that may present with similar symptoms [7].

Key points:

• MPV17 mutations are responsible for severe mitochondrial depletion syndrome, mainly affecting the liver and nervous system [8].
• The diagnosis of MPV17-related mtDNA maintenance defect is established through molecular analysis, identifying biallelic pathogenic variants in the MPV17 gene [9].
• Pathogenic MPV17 mutations can cause mitochondrial DNA depletion syndrome with varied presentations, including neurological, muscular, and hepatic symptoms [10].

References:

[6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9 [10] Context 10