Several rare mutations affecting genes in mitochrondria can result in a syndrome with myopathy, lactic acidosis and sideroblastic anemia (MLASA).
Genes that may be affected:
(1) PUS1 (pseudouridylate synthetase)
(2) ATP6
(3) YARS2 (mitochondrial tyrosyl-tRNA synthetase)
Shared clinical features:
(1) myopathy
(2) lactic acidosis
(3) sideroblastic anemia
Additional findings may be present, depending on the gene and mutation:
(1) developmental delay
(2) failure to thrive
(3) cardiomyopathy
(4) respiratory failure
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Specialty: Hematology Oncology
