6-Pyruvoyltetrahydropterin synthase deficiency

6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.^[1]

References

^ Thöny B, Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755.

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v t e Metabolic disorders of vitamins, coenzymes, and cofactors
B7 Biotin/MCD	Biotinidase deficiency Holocarboxylase synthetase deficiency
Other B	B5 (Pantothenate kinase-associated neurodegeneration) B12 (Methylmalonic acidemia)
Other vitamin	Familial isolated vitamin E deficiency
Nonvitamin cofactor	Tetrahydrobiopterin deficiency Molybdenum cofactor deficiency