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BIODEF BIOMDB BIOPKU JAKE Literature Zurich

PNDDB - PNPO deficiency

OMIM 610090

Locus: 17q21.32

Gene: PNPO

Enzyme: Pyridoxamine 5'-phosphate oxidase (EC 1.4.3.5)

Reaction: Pyridoxamine 5'-phosphate > > Pyridoxal 5'-phosphate + NH3

DD:

Diagnosis: CSF, Blood, Urine, DNA
CSF: Thr (high), Gly (high), 3OMD (high), L-Dopa (high), 5HTRP (high), 5HIAA (low), HVA (low)
Urine: Vanillactic acid (high)
Blood: Prolactin (high)
DNA: see PNDDB

Clinical signs & symptoms:
Neonatal epileptic encephalopathy

Treatment:
PLP <15 mg/d - 4 doses/day

Alternative treatment:

Literature:
 

 


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