6-pyruvoyltetrahydropterin synthase

6-pyruvoyltetrahydropterin synthase
An enzyme that catalyzes a step in the synthesis of tetrahydrobiopterin; a deficiency of this enzyme will result in one form of hyperphenylalaninemia.

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(PTPS) (PTS) 6-py·ru·voyl·tet·ra·hy·drop·ter·in syn·thase (PTPS) (PTS) (pi-roo″vo-əl-tet″rə-hi-dropґtər-in sinґthās) an enzyme catalyzing the rate-limiting reaction in the synthesis of tetrahydrobiopterin from guanosine triphosphate. Deficiency of the enzyme, an autosomal recessive trait caused by mutation of the PTS gene, which encodes the enzyme, is a form of tetrahydrobiopterin deficiency (q.v.).

Medical dictionary. 2011.

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