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We detected a first case of 6-Pyruvoyl-tetrahydropterin synthase deficiency in Neuropediatric department mongi Ben Hmida of Tunisia. Genetic analyses of PTS gene demonstrated a homozygous mutation; treatment had been started at the age of 3 years. *Correspondence to: Fahmi Nasrallah, Laboratory of Biochemistry, Rabta Hospital, 1007 Jebbari, Tunis, Tunisia, Tel: 216 71 561912, E-mail: fehmi56@yahoo.fr

6-Pyruvoyl-tetrahydropterin synthase deficiency: The first Tunisian case