Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients
Introduction: 6-Pyruvoyl-tetrahydropterin synthase deficiency (PTPSd) is a rare autosomal recessive disorder of
synthesis of biogenic amines, which is characterized by variable neurological impairment and hyperphenylalaninemia.
We aimed to assess the long-term clinical outcome of this disorder and the factors affecting it.
Methods: At total of 28 PTPSd patients (aged 19.9 ± 10.9 years) underwent clinical (neurological and psychiatric)
and neuropsychological assessment (BRIEF, VABS-II, and IQ). Based on CSF homovanillic (HVA) and 5-