Methylmalonová acidémie způsobená deficitem methylmalonyl-CoA-epimerázy
ORPHA:308425· ICD-10 E71.1· Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Childhood, Infancy