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