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6-pyruvoyl-tetrahydropterin synthase deficiency MeSH Supplementary Concept Data 2022


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
PTS Deficiency
Registry Number
0
Heading Mapped to
*Phenylketonurias
Phosphorus-Oxygen Lyases / *deficiency
Frequency
18
Note
PROM mutation in 6-pyruvoyl-tetrahydropterin synthase
Date of Entry
2010/06/25
Revision Date
2013/11/06
6-pyruvoyl-tetrahydropterin synthase deficiency Preferred
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