title: A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hospital Son Dureta, Palma de Mallorca, Spain.
authors.forename: Angeles
authors.initials: A
authors.lastname: Ruiz
authors.forename: Judit
authors.initials: J
authors.lastname: García-Villoria
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazabal
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Miquel
authors.initials: M
authors.lastname: Fiol
authors.forename: Aleix
authors.initials: A
authors.lastname: Navarro-Sastre
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Maria Antonia
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Antonia
authors.initials: A
authors.lastname: Ribes
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D018389:Codon, Nonsense; D004827:Epilepsy / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D017809:Fatal Outcome; D005808:Genes, Recessive; D006719:Homovanillic Acid / Q000031:analogs & derivatives / Q000652:urine; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011732:Pyridoxal Phosphate / Q000627:therapeutic use; D011734:Pyridoxaminephosphate Oxidase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C003753:vanillactic acid; D011732:Pyridoxal Phosphate; D011734:Pyridoxaminephosphate Oxidase; D006719:Homovanillic Acid