Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome

Am J Med Genet. 1995 Jan 30;55(3):372-8. doi: 10.1002/ajmg.1320550325.


We describe 2 sibs (brother and sister) with myopathy, sideroblastic anemia, lactic acidosis, mental retardation, microcephaly, high palate, high philtrum, distichiasis, and micrognathia. Very low levels of cytochromes a, b, and c were detected in the patients' muscle mitochondria. Deposition of iron within the mitochondria of bone marrow erythroblasts was observed on electron microscopy. Irregular and enlarged mitochondria with paracrystalline inclusions were also seen on electron microscopy of the patients' muscle specimen. Examination of DNA from the affected sibs showed no deletions in the mitochondrial DNA nor the mutations identified in the syndromes of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) or myoclonus, and epilepsy associated with rugged-red fibers (MERRF). Since the parents were first cousins and 2 of 6 sibs (male and female) were affected, we suggest that the syndrome expressed by our patients represents a previously unknown autosomal recessive disorder that includes mitochondrial myopathy, lactic acidosis, and sideroblastic anemia.

Publication types

  • Case Reports

MeSH terms

  • 5-Aminolevulinate Synthetase / blood
  • Abnormalities, Multiple*
  • Acidosis, Lactic*
  • Adult
  • Anemia, Sideroblastic*
  • Consanguinity
  • Cytochromes / analysis
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics
  • Female
  • Humans
  • Intellectual Disability*
  • Male
  • Mitochondria, Muscle / enzymology
  • Mitochondrial Myopathies*
  • Porphobilinogen Synthase / blood
  • Syndrome


  • Cytochromes
  • DNA, Mitochondrial
  • 5-Aminolevulinate Synthetase
  • Porphobilinogen Synthase