ORPHA:226
Dihydropteridine reductase deficiency
Also called Hyperphenylalaninemia due to dihydropteridine reductase deficiency, PKU type 2, Phenylketonuria type 2
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:226 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Intellectual disability
- Global developmental delay
- Dysphagia