Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations
Published: 11-21-2019 In Publication
- • PNPO deficient zebrafish (Danio rerio) and HEK293 cell line were generated using CRISPR/Cas9 gene editing technology.
- • PNPO deficiency resulted in strong shortening of the survival and in development of fatal spontaneous seizures.
- • PLP treatment increased survival and normalized PLP, pyridoxal, 4-pyridoxic acid, GABA, glutamate and glycine levels.
- • PLP treatment did not prevent accumulation of pyridoxamine, pyridoxamine 5’-phosphate and several essential amino acids.
- • Accumulation of pyridoxamine 5’-phosphate may play a role in the residual clinical phenotype of PNPO deficiency.