MeSH Browser

MeSH Supplementary: 6-pyruvoyl-tetrahydropterin synthase deficiency
Unique ID: C535325
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535325
Entry Term(s): HPABH4A; Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-Deficient, Type A; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To PTS Deficiency; PTPS deficiency; PTS Deficiency
Registry Number: 0
Heading Mapped to: *Phenylketonurias; Phosphorus-Oxygen Lyases / *deficiency
Frequency: 23
Note: PROM mutation in 6-pyruvoyl-tetrahydropterin synthase
Date of Entry: 2010/06/25
Revision Date: 2022/11/02

6-pyruvoyl-tetrahydropterin synthase deficiency MeSH Supplementary Concept Data 2024