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myopathy with lactic acidosis & sideroblastic anemia; mitochondrial myopathy & sideroblastic anemia (MLASA)
Epidemiology: rare
Pathology:
- oxidative phosphorylation disorder specific to skeletal muscle & bone marrow
- sideroblastic anemia
Genetics:
1) autosomal recessive
2) defects in PUS1 are a cause of MLASA type 1 [1]
3) defects in YARS2 are the cause of MLASA type 2 [2]
Clinical manifestations:
- progressive lethargy
- muscle weakness
- exercise intolerance
Laboratory:
- plasma lactate: persistent lactic acidemia
- complete blood count: anemia
- bone marrow biopsy
General
genetic disease of muscle (inherited myopathy)
genetic disease of the blood/bone marrow
enzyme deficiency
Database Correlations
OMIM correlations
References
- OMIM :accession 600462
- OMIM :accession 613561