6-Pyruvoyltetrahydropterin synthase deficiency

6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.

• Thony B, Blau N (1997). “Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes”. Hum Mutat. 10 (1): 11–20. PMID 9222755

• Online Mendelian Inheritance in Man (OMIM) 261640

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