Latest News -Mitochondrial Disease Types

Complex V Deficiency Long Name: ATP synthase deficiency Symptoms: Slow, progressive myopathy Links:...

CPT I Deficiency Symptoms: Enlarged liver and recurrent Reye-like episodes triggered by fasting or illnesses Cause: Autosomal recessive...

CPT II Deficiency Symptoms – Myopathic: Exercise intolerance, fasting intolerance, muscle pain, muscle stiffness, and myoglobin in the urine...

What is CPEO? See similar topics: KSS, Mitochondrial Deletion Syndrome, CPEO-Plus Chronic progressive external ophthalmoplegia (CPEO) is a...

My Mito Story: Living with CPEO-Plus Hear first-hand from other families diagnosed with Chronic progressive external ophthalmoplegia “plus” As...

Creatine Deficiency Syndromes Additional names: Cerebral Creatine Deficiency Syndromes (CCDS) includes: Guanidinoaceteate Methyltransferase...

What is FBXL4-Associated Mito? FBXL4-Associated Mitochondrial Disease (FBXL4-Associated Mito), also known as encephalopathic Mitochondrial DNA...

Just Launched: My Mito Story As part of UMDF’s commitment to raising the voice of patients, Ashton Fairchild Ferguson, a 23-year-old...

Lactic Acidosis Cause: The accumulation of lactic acid due to its production exceeding its use. Chronic lactic acidosis is a common symptom of...

What is LBSL? Leukoencephalopathy with Brainstem and Spinal cord involvement and Lactate elevation (LBSL) is a rare type of leukodystrophy,...