ORPHA:300
Bifunctional enzyme deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy
- Estimated prevalence
- 1-9 / 100 000 (Worldwide)
- Rarity class
- 1-9 / 100 000
ORPHA:300 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.