Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene

• Published in: Metabolic brain disease Vol. 37; no. 8; pp. 3027 - 3032
• Main Authors: İpek, Rojan, Çavdartepe, Büşra Eser, Kor, Deniz, Okuyaz, Çetin
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.12.2022; Springer Nature B.V
• Subjects: Age; Antiepileptic agents; Biochemistry; Biomedical and Life Sciences; Biomedicine; Convulsions & seizures; Differential diagnosis; Drugs; Encephalopathy; Epilepsy; Genetic screening; Health services; Infants; Intellectual disabilities; Metabolic Diseases; Metabolic disorders; Metabolism; Microencephaly; Mutation; Neonates; Neurology; Neurosciences; Oncology; Pyridoxine; Seizures; Short Communication; Pyridoxine; Seizure; Gene; Microcephaly
• ISSN: 0885-7490; 1573-7365
• DOI: 10.1007/s11011-022-01085-3

Seizures in newborn infants may be the first finding of hereditary metabolic diseases. Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated with defects in the one of ALDH7A1, PNPO, or PLPBP genes and it is uncommon but progresses with persistent seizures in the neonatal and infancy period. The seizures are generally resistant to traditional antiepileptic drugs and show a dramatic response to high-dose pyridoxine. In 2016, mutations were reported in PLPBP (previously known as PROSC ) gene, which encodes pyridoxal phosphate homeostatic protein (PLPHP). When early-onset antiepileptic resistant seizures are not treated, clinical findings emerge including the development of encephalopathy, congenital microcephaly, and subsequent retardation of psychomotor development. The present case is a 33-month-old female infant with seizures starting from postnatal day 1, who did not respond to traditional anti-epileptic drugs but responded to pyridoxine treatment. In the genetic tests, homozygote c.695 C > T (p.Ala232Val) mutation was determined in the PLPBP gene, which has not been previously identified. Since a specific treatment was found, this case is reported with the aim of emphasizing the need to consider pyridoxine dependence, which is one of the vitamin-dependent metabolic encephalopathies, in the differential diagnosis of epilepsy patients.