6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study

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Abstract
We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia‐like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6‐PTS gene. This study indicates that genetic abnormality in the 6‐PTS gene may be a hereditary dystonic disorder. We speculate that our patient has residual 6‐PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tretrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms.