Phenylketonurias
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).
Subtype terms (1)
More specific conditions that are subtypes of Phenylketonurias in the MeSH hierarchy.
Drugs by status
Approved for this indication (3)
Phase 4 trials (4)
Phase 1 trials (5)
Other trials (6)
Organizations
Organization Involved with Phase 4 Indications (8)
Organization Involved with Phase 3 Indications (2)
Organization Involved with Phase 2 Indications (7)
Organization Involved with Phase 1 Indications (7)
Organization Involved with Other Experimental Indications (14)
- Vitaflo
- University of Pennsylvania
- Georgetown University
- Oregon Health and Science University
- University of Miami
- University of British Columbia
- University of Texas at Houston
- Ludwig Maximilians University
- University of Tuebingen
- Children's National Medical Center
- Johannes Gutenburg University
- European Union
- Nutricia
- Dr. Schär AG