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PNDDB - TPH deficiency
OMIM 191060 and 607478
Gene: TPH1 and TPH2 (neuronal)
Enzyme: Tryptophan-5-hydroxylase (EC 1.14.16.4)
Reaction: Trp > (+O2 + BH4) > 5-OH-Trp
DD: so far no confirmed cases described
Diagnosis:
Clinical signs & symptoms:
Treatment:
Alternative treatment:
Literature: