Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:2598

Mitochondrial myopathy and sideroblastic anemia

Also called MLASA, Myopathy, lactic acidosis and sideroblastic anemia

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Adolescent, Childhood, Infancy
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:2598 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • High palate
  • Long philtrum
  • Micrognathia
  • Hypotonia
  • Anemia
  • Abnormality of metabolism/homeostasis