Editing Vitamin B6 (section)

====Genetic defects====
Genetically confirmed diagnoses of diseases affecting vitamin B<sub>6</sub> metabolism ([[ALDH7A1]] deficiency, [[PNPO|pyridoxine-5'-phosphate oxidase deficiency]], [[Pyridoxal phosphate|PLP binding protein deficiency]], [[hyperprolinaemia type II]] and [[hypophosphatasia]]) can trigger vitamin B<sub>6</sub> deficiency-dependent [[epilepsy|epileptic seizures]] in infants. These are responsive to pyridoxal 5'-phosphate therapy.<ref name="Ghatge2021">{{cite journal |vauthors=Ghatge MS, Al Mughram M, Omar AM, Safo MK |title=Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies |journal=Biochimie |volume=183 |issue= |pages=18–29 |date=April 2021 |pmid=33421502 |doi=10.1016/j.biochi.2020.12.025 |s2cid=231437416 |url=|pmc=11273822 }}</ref><ref name="Mastrangelo2019">{{cite journal |vauthors=Mastrangelo M, Cesario S |title=Update on the treatment of vitamin B6 dependent epilepsies |journal=Expert Rev Neurother |volume=19 |issue=11 |pages=1135–47 |date=November 2019 |pmid=31340680 |doi=10.1080/14737175.2019.1648212 |s2cid=198496085 |url=}}</ref>