Latest News -Mitochondrial Disease Types

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

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...