Phenylketonurias
Recent clinical, regulatory, research and industry developments relating to this disease.
Approval: Sephience (EMA)
Approval: Sapropterin Dipharma (EMA)
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- Active recent publication activity.
Research HighlightsViewHide
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes7
- Escherichia coli1
- Gastrointestinal Microbiome1
- Genetic Therapy1
- Metabolic Engineering1
- Phenylalanine Hydroxylase1
- Phenylketonurias1
- Synthetic Biology1
Leading journals3
- American journal of human genetics1
- Archives of microbiology1
- Nature biotechnology1
Leading researchers8
- Ahrens-Nicklas RC1
- Anderson CL1
- Bergeron CG1
- Brooks DL1
- Castillo MJ1
- Falb D1
- Fisher AB1
- Guilmain SE1
Affiliations (unnormalised)5
- Cardiovascular Institute1
- College of Veterinary Medicine1
- Medical School1
- Perelman School of Medicine at the University of Pennsylvania1
- Swami Vivekananda Institute of Modern Sciences1
Reference
Authoritative identity, definition & identifiers.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.