A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency
| Autor: | Angeles Ruiz, Miquel Fiol, Judit García-Villoria, Rafael Artuch, Aida Ormazabal, Aleix Navarro-Sastre, Antonia Ribes, Maria Antonia Vilaseca, Johannes Zschocke |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Hyperglycinemia Endocrinology Diabetes and Metabolism Urinary system PNPO Genes Recessive Biochemistry chemistry.chemical_compound Fatal Outcome Endocrinology Internal medicine Genetics medicine Humans Pyridoxal phosphate Molecular Biology chemistry.chemical_classification Oxidase test Epilepsy Homozygote Infant Newborn Brain Diseases Metabolic Inborn Infant Homovanillic Acid Phosphate medicine.disease Pyridoxaminephosphate Oxidase Amino acid Enzyme chemistry Codon Nonsense Pyridoxal Phosphate lipids (amino acids peptides and proteins) |
| Zdroj: | Molecular Genetics and Metabolism. 93:216-218 |
| ISSN: | 1096-7192 |
| Popis: | We present a patient with severe pyridox(am)ine 5'-phosphate oxidase deficiency and homozygosity for a novel nonsense-mutation, p.A174X, in the PNPO gene who died with pyridoxal phosphate (PLP) treatment despite initial clinical recovery. He presented neonatally, with the classical clinical symptoms of the disease. Increase of urinary vanillactate was the first biochemical factor of alert. Amino acid and neurotransmitter analysis in CSF indicated reduced activity of several PLP-dependent enzymes. The diagnosis was confirmed by mutational studies. From this and the other reported patients it may be concluded that the administration of PLP should not be delayed until the complete biochemical evidence is obtained. |
| Databáze: | OpenAIRE |
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