A preterm neonate with seizures unresponsive to conventional treatment.
Napoli, Italy. In Bmj Case Rep, 2014
Sequencing of the pyridox(am)ine 5'-phosphate oxidase (PNPO) gene revealed a heterozygous insertion of a single base in exon 7. The second allele was found to be normal although the patient may carry a mutation in another gene of the vitamin B6 pathway.
The genetic landscape of infantile spasms.
Montréal, Canada. In Hum Mol Genet, 2014
Several pathogenic mutations were identified, including de novo mutations in STXBP1, CASK and ALG13, as well as recessive mutations in PNPO and ADSL, together explaining 28% of cases (5/18).
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Roma, Italy. In Pediatr Neurol, 2012
We summarize recent updates on the genes and related clinical syndromes involved in the pathogenesis of early-onset epileptic encephalopathies: Aristaless-related homeobox (ARX), cyclin-dependent kinase-like 5 (CDKL5), syntaxin-binding protein 1 (STXBP1), solute carrier family 25 member 22 (SLC25A22), nonerythrocytic α-spectrin-1 (SPTAN1), phospholipase Cβ1 (PLCβ1), membrane-associated guanylate kinase inverted-2 (MAGI2), polynucleotide kinase 3'-phosphatase (PNKP), sodium channel neuronal type 1α subunit (SCN1A), protocadherin 19 (PCDH19), and pyridoxamine 5-prime-phosphate oxidase (PNPO).
Biomedical aspects of pyridoxal 5'-phosphate availability.
Roma, Italy. In Front Biosci (elite Ed), 2011
In humans, PLP is recycled from food and from degraded PLP-dependent enzymes in a salvage pathway requiring the action of pyridoxal kinase, pyridoxine 5'-phosphate oxidase and phosphatases.
Vitamin B(6) salvage enzymes: mechanism, structure and regulation.
Roma, Italy. In Biochim Biophys Acta, 2011
In animals, pyridoxal 5'-phosphate is recycled from food and from degraded B(6)-enzymes in a "salvage pathway", which essentially involves two ubiquitous enzymes: an ATP-dependent pyridoxal kinase and an FMN-dependent pyridoxine 5'-phosphate oxidase.