Дефіцит 6-пірувоїл-тетрагідроптеринсинтази

Визначення(English summary)

A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.