Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Abstract

Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.

Vitamins in the monkey brain: An immunocytochemical study

“…Many studies have demonstrated the involvement of vitamins and their derivatives in very different metabolic processes (Rice, 2000;Ying et al, 2005;Spinneker et al, 2007). Moreover, some vitamin deficiencies have been related to certain pathologies, and vitamins have also been used as a preventive medication in different diseases (Brahma et al, 2000;Sadanaga-Akiyoshi et al, 2003;Bustamante et al, 2007;Nakamura et al, 2007;Spinneker et al, 2007;Bagci et al, 2008). In order to detect vitamins in the different organs and fluid samples from several species, biochemical studies using different types of chromatography (Botticher and Botticher, 1987;Annous and Song, 1995;Sadanaga-Akiyoshi et al, 2003;Chatzimichalakis et al, 2004;Fatini et al, 2005;Vovk et al, 2005;Majchrzak et al, 2006;Marchlewicz et al, 2007;Fabian et al, 2008), vitamin-binding protein assays (Yoshioka et al, 1990(Yoshioka et al, , 1992, enzymatic immunoassays (Miller and Turner, 1989) and radioimmunoassays (Annous and Song, 1995;Fatini et al, 2005;Majchrzak et al, 2006) have been carried out.…”

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

“…These secondary changes were later found to be inconsistent and several patients with PNPO deficiency with increased HVA and HIAA in CSF have been described (Khayat et al 2008;Bagci et al 2009;Porri et al 2014). Reduced PLP in CSF of PNPO-deficient patients (Mills et al 2005;Ormazabal et al 2008;Ruiz et al 2008;Porri et al 2014) turned out to be unspecific, as it was also found in patients with ATQ deficiency or molybdenum cofactor deficiency (MOCOD) (Footitt et al 2011) and in patients with epilepsy of unclear etiology (Goyal et al 2013).…”

Obtaining genetic testing in pediatric epilepsy

“…44 Biochemical findings include elevated glycine and threonine on the plasma amino acid profile, elevated CSF L-DOPA and 3-methoxytyrosine, and reduced urine homovanillic acid and 5-hydroxyindoleacetic acid. 45 Treatment with pyridoxal-5-phosphate 30-50 mg/kg/day divided in three to four doses can lead to reduction in seizure recurrence and improvement of cognitive functions. 46…”