Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters...
Comprehensive, easy-to-understand information about this condition
How we create this content →Connect with organizations supporting the dihydropteridine reductase deficiency community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the dihydropteridine reductase deficiency community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the dihydropteridine reductase deficiency community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Inheritance patterns describe how genetic conditions are passed from parents to children.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.