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

• autosomal recessive
• defects in PUS1 are a cause of MLASA type 1
• defects in YARS2 are the cause of MLASA type 2

Clinical manifestations

• progressive lethargy
• muscle weakness
• exercise intolerance

Laboratory

• plasma lactate: persistent lactic acidemia
• complete blood count: anemia
• bone marrow biopsy

More general terms

• genetic disease of muscle (inherited myopathy)
• genetic disease of the blood/bone marrow
• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/600462
• OMIM: https://mirror.omim.org/entry/613561