Latest News -Mitochondrial Disease Types

Complex V Deficiency

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

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CPT I Deficiency

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

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Co-Enzyme Q10 Deficiency

Co-Enzyme Q10 Deficiency Symptoms: Encephalomyopathy, developmental delays, exercise intolerance, ragged-red fibers, and recurrent myoglobin in...

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CPEO

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

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CPEO Plus

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

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CPT II Deficiency

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

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Creatine Deficiency Syndromes

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

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KSS

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

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Lactic Acidosis

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

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LBSL – Leukodystrophy

LBSL – Leukodystrophy Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a result of a DARS2 gene...

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