Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Centre for Paediatrics, Department of Neonatology, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.
Archives of Disease in Childhood - Fetal and Neonatal Edition (Impact Factor: 3.12). 04/2008; 93(2):F151-2. DOI: 10.1136/adc.2006.115162
Source: PubMed

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.

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    • "Calycosin can cause stress-induced phosphoprotein 1 (StIP1) expression increase. StIP1 as a crucial chaperone has the possibility to substantial accommodation of cytogenesis in tumor, stress reaction, and cell proliferation and differentiation [19]. The expression of StIP1 is obviously downregulated in paclitaxel-resisted ovarian cancer cell strain OC3/Tax300 [20]. "
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    ABSTRACT: We cocultured calycosin with human hepatocellular carcinoma cell line (BEL-7402) to investigate the effect on cell proliferation. Calycosin can markedly block the cell growth in G 1 phase ( P < 0.01 ) on the IC 50 concentration. There were seventeen genes involved in cell-cycle regulation showing differentially expressed in treated cells detected by gene chip. Eight genes were upregulated and nine genes were downregulated. Downregulated TFDP-1, CDKN2D, and SPK2 and upregulated CDC2 and CCNB1 might affect cell cycle of tumor cells. Furthermore, we checked the transcription pattern using 2D gel method to find different expression of proteins in human hepatocellular carcinoma cells after exposure to calycosin. Fourteen proteins were identified by matrix-assisted laser desorption/ionization-time of flight-mass spectrometry (MALDI-TOF-MS). Twelve proteins expression were increased such as transgelin 2, pyridoxine 5′-phosphate, stress-induced-phosphoprotein 1, peroxiredoxin 1, endoplasmic reticulum protein 29, and phosphoglycerate mutase 1. Only thioredoxin peroxidase and high-mobility group box1 proteins’ expression decreased. Both genes and proteins changes might be relate to the mechanism of antitumor effect under treatment of calycosin. In conclusion, calycosin has a potential effect to inhibit the BEL-7402 cell growth by inhibiting some oncogene expression and increasing anticancer genes expression, what is more, by blocking cell cycle.
    12/2013; 2013(5):317926. DOI:10.1155/2013/317926
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    • "Untreated, the disorder results either in death or in profound neurodevelopment impairment. In treated patients, particularly those in whom the disorder was recognized early, near normal development may be possible [14]. CSF and urine analyses in affected children show evidence of secondary deficiencies of several PLPdependent enzymes including aromatic L-amino acid decarboxylase (decreased CSF concentrations of homovanillic acid and 5-hydroxyindoleacetic acid and increased L-DOPA and 3-methoxytyrosine as well as increased urinary concentrations of vanillactic acid) [5]. "
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    ABSTRACT: Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signatures. The diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. However a specific diagnosis of metabolic disorders in epileptic patients may provide the possibility of specific treatments that can improve seizures. In a few metabolic diseases, epilepsy responds to specific treatments based on diet or supplementation of cofactors (vitamin-responsive epilepsies), but for most of them specific treatment is unfortunately not available, and conventional antiepileptic drugs must be used, often with no satisfactory success. In this review we present an overview of metabolic epilepsies based on various criteria such as treatability, age of onset, seizure type, and pathogenetic background.
    Brain & development 12/2012; 35(9). DOI:10.1016/j.braindev.2012.11.010 · 1.88 Impact Factor
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    • "There are several clinical features that manifest in patients with PNPOx deficiency-related NEE or PLP-dependent NEE. These include, but are not limited to, fetal distress, convulsion, hypoglycemia, lactic acidosis, intractable seizures, hypoglycemia, acidosis, anemia, increased blood lactate, electroencephalogram with burst suppression pattern, and asphyxia [5] [6] [62] [63] [64] [65] [66] [67]. Due to the severe deficiency of PLP, people with this disorder show reduced activity of several PLP-dependent enzymes, e.g. "
    Miscellanea on Encephalopathies - A Second Look, 04/2012; , ISBN: 978-953-51-0558-9
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