BH4 Databases


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List of PND

PNDDB - TPH deficiency

OMIM 191060 and 607478

Locus: 11p15.1 and 12q21.1

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:

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