Hereditary myopathy with lactic acidosis due to ISCU deficiency
What is Hereditary myopathy with lactic acidosis due to ISCU deficiency?
A rare disorder of energy metabolism characterized clinically by myopathy with severe exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes, succinate dehydrogenase and aconitase.
Other condition names
- Aconitase deficiency
- ISCU myopathy
- Iron-sulfur cluster deficiency myopathy
- Myopathy with exercise intolerance, Swedish type
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Childhood
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