Latest News -Mitochondrial Disease Types

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...

SCAD Long Name: Short-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Failure to thrive, developmental delay, and hypoglycemia Cause:...

SCHAD Short Chain 3-hydroxyacyl CoA Dehydrogenase Deficiency Symptoms: Encephalopathy and possibly liver disease or cardiomyopathy Cause:...

What is TK2d? Thymidine kinase 2 deficiency (TK2d) is a rare genetic mitochondrial disease that may also be called TK2-Related Mitochondrial...

VLCAD Long Name: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Various manifestations, ranging from fatal infantile...