Table 1.

Genotype – phenotypic presentations of PNPO gene [[5], [6], [7], [8]].

Sl. no	Gene and mutation	Response to pyridoxine	Worsening on transition to pyridoxal phosphate	Concurrent use of antiseizure medication	Any need for additional vitamins
1 child Jaeger et al. Neonatal onset seizures	PNPO gene homozygous c.481C > T; p. (Arg161Cys)	Yes	Not attempted	No	No
8 children Plecko et al. Neonatal onset seizures	PNPO gene homozygous Exon 7 c.674G > A; p(Arg225His)	Yes	1/8 children had worsening on transitioning	4/8 children require additional antiseizure medications	No
1 child Pearl et al. Neonatal onset seizures	PNPO gene Homozygous Exon 3 c.352G > A; p. G118R	Yes But response was only for 6 weeks	No	No	No
1 child Plecko et al. Neonatal onset seizures	PNPO gene Compound heterozygous p. Arg141Cys in exon 5 and a deletion c.279_290del in exon 3	Yes	No	Required additional antiseizure medication	No