Mitochondrial myopathy and sideroblastic anemia

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

Lactic acidosis

An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.


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PMID (PMCID)
15971356
 MALE Adult
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, Lev D, Mimouni M, Lerman-Sagie T.
J Child Neurol. 2005;20(5):449-52.
We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia.