Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

Abstract

6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds.