Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5'-Phosphate

Indian J Pediatr. 2023 Jun;90(6):623. doi: 10.1007/s12098-023-04560-6. Epub 2023 Mar 16.

Authors

Vykuntaraju K Gowda¹, Varunvenkat M Srinivasan²

Affiliations

¹ Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. drknvraju08@gmail.com.
² Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India.

PMID: 36922472
DOI: 10.1007/s12098-023-04560-6

No abstract available

Publication types

Letter

MeSH terms

Humans
Metabolic Diseases*
Oxidoreductases
Phenotype
Phosphates
Pyridoxal Phosphate
Spasms, Infantile*

Substances

Oxidoreductases
Phosphates
Pyridoxal Phosphate