6-Pyruvoyltetrahydropterin synthase deficiency

6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.cite journal |author=Thöny B, Blau N |title=Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes |journal=Hum. Mutat. |volume=10 |issue=1 |pages=11–20 |year=1997 |pmid=9222755 |doi=10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P |url=http://dx.doi.org/10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P]

ee also

* 6-pyruvoyltetrahydropterin synthase

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6-Pyruvoyltetrahydropterin synthase deficiency

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