ORPHA:508523
Hyperphenylalaninemia due to DNAJC12 deficiency
Also called Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:508523 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.