PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

PND General Information

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PNDDB - Pediatric Neurotransmitter Diseases


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: