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...

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

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

What is CPEO “plus”? Chronic progressive external ophthalmoplegia “plus” (CPEO “plus”) is a mitochondrial DNA deletion syndrome...

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

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

What is KSS? See related: CPEO, Mitochondrial Deletion Syndrome Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that...

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

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