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What is MNGIE? Mitochondrial neurogastointestinal encephalomyopathy (MNGIE) is a mitochondrial disease that primarily impacts the digestive and...

NARP Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa Cause: Mitochondrial DNA point mutations in genes associated with Complex V:...

What is Pearson Syndrome? Pearson syndrome is a mitochondrial DNA deletion syndrome with the onset in the first six months of life that...

What is PolG? See related: CPEO, Mitochondrial Deletion Syndrome RELATED POST: A Message from UMDF on the Passing of Prince Frederik. Posted...

For more information on the FDA’s decision on dichloroacetate (DCA) for the treatment of the mitochondrial disease Pyruvate Dehydrogenase...

What is PPA2? This information is brought to you in partnership with Heart of PPA2. Inorganic pyrophosphatase 2 deficiency – commonly known as...

What is PCQD? Primary Co-Enzyme Q10 Deficiency (PCQD) is a rare and progressive mitochondrial respiratory chain disorder, also known as Primary...

What are primary mitochondrial myopathies? Primary mitochondrial myopathies (PMM) are a group of genetically defined mitochondrial diseases...

Pyruvate Carboxylase Deficiency Symptoms: Lactic acidosis, hypoglycemia, severe retardation, failure to thrive Common Symptoms: Seizures and...

What is SANDO? Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is a very rare mitochondrial disease that is part of the...