Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency

Long-term follow-up and adult outcome of

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

✍ Emmanuel Roze; Marie Vidailhet; Nenad Blau; Lisbeth Birk Moller; Diane Doummar; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB

## Abstract Little information is available on the long‐term course and adult outcome of patients with 6‐pyruvoyl‐tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32‐year‐old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and in