Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients
| Autor: | Angels García-Cazorla, Rafael Artuch, Keith Hyland, Jaume Campistol, Angeles Ruiz, Mercedes Serrano, Peter E. Clayton, Juan Antonio Moreno, Marcus Oppenheim, Simon Heales, Antonia Ribes, Aida Ormazabal |
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| Rok vydání: | 2007 |
| Předmět: |
Male
medicine.medical_specialty Pyridoxal 5-Phosphate Pathology Biogenic Amines Adolescent Endocrinology Diabetes and Metabolism PNPO chemical and pharmacologic phenomena Biochemistry chemistry.chemical_compound Endocrinology Cerebrospinal fluid immune system diseases Reference Values Internal medicine Biogenic amine Genetics medicine Humans Child Molecular Biology Pyridoxal Chromatography High Pressure Liquid Paediatric patients chemistry.chemical_classification business.industry PNPO DEFICIENCY Infant Newborn Infant Pyridoxaminephosphate Oxidase United Kingdom nervous system diseases chemistry Spain Reference values Child Preschool Pyridoxal Phosphate lipids (amino acids peptides and proteins) Female business Deficiency Diseases |
| Zdroj: | Molecular genetics and metabolism. 94(2) |
| ISSN: | 1096-7206 |
| Popis: | Our aim was to establish reference values for cerebrospinal fluid (CSF) pyridoxal 5′-phosphate (PLP) in a paediatric population for the diagnosis of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency. For reference values, CSF samples from 113 paediatric controls (age range: 1 day–18 years) from Barcelona and London were analysed. Cerebrospinal fluid PLP and biogenic amine concentrations were analysed by HPLC with fluorescence and electrochemical detection. Pyridoxal 5′-phosphate concentrations in 4 patients with PNPO deficiency were determined. A negative correlation between CSF PLP values and age of controls was observed in both populations ( r =−0.503; p r =−0.542; p =0.002). Reference values were stratified into 4 (Barcelona) and 3 age groups (London). For the newborn period, CSF PLP reference intervals were 32–78 and 44–89nmol/L for the Barcelona and London centers, respectively). No correlation was observed in the different age groups between PLP values and biogenic amines metabolites. PLP values in neonates with PNPO deficiency were clearly decreased (PLP=3.6, 12.0, 14.0 and 18.0nmol/L) compared with our reference ranges. In conclusion, reference values for CSF PLP should be stratified according to age. No association was observed between PLP values and biogenic amines metabolites. In our 4 cases with PNPO deficiency, CSF PLP values were clearly below the reference values. |
| Databáze: | OpenAIRE |
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