6-Pyruvoyltetrahydropterin synthase deficiency
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6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.[1]
[edit] See also
[edit] References
- ^ Thöny B, Blau N (1997). "<11::AID-HUMU2>3.0.CO;2-P Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi: . PMID 9222755.
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