Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review

Abstract

Pyridox(am)ine 5'-phosphate oxidase deficiency results in an early-onset neonatal encephalopathy that can be fatal if not detected and treated early. The condition is rare, can result in preterm delivery, and can mimic hypoxic ischemic encephalopathy. Thus, suspicion of the diagnosis, appropriate investigations, and therapeutic trials with pyridoxal-5'-phosphate are often delayed. In this paper we report four cases of pyridox(am)ine 5'-phosphate oxidase deficiency, two of whom are siblings. Three were treated with pyridoxal-5'-phosphate in the first few days of life and the fourth within the first month. One of the siblings was electively treated from birth until a diagnosis was secured. Our cases demonstrate that early diagnosis and treatment can be associated with normal neurodevelopment in childhood. We suggest that a low threshold for investigating for pyridox(am)ine 5'-phosphate oxidase deficiency and electively treating with pyridoxal-5'-phosphate is considered in any neonate with encephalopathy, including those with presumed hypoxic ischemic encephalopathy in whom the degree of encephalopathy is not expected from perinatal history, cord gases and/or neuroimaging.JIMD Rep. 2013;9:139-42. (PMID: 23430561); Pediatrics. 2012 Jul;130(1):e191-8. (PMID: 22732169); J Inherit Metab Dis. 2007 Feb;30(1):96-9. (PMID: 17216302); Dev Med Child Neurol. 2010 Jul;52(7):e133-42. (PMID: 20370816); Brain. 2014 May;137(Pt 5):1350-60. (PMID: 24645144); JIMD Rep. 2014;17:67-70. (PMID: 25256445); Pediatr Neurol. 2013 Mar;48(3):227-31. (PMID: 23419474); J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):317-26. (PMID: 16763894); Mol Genet Metab. 2011 Nov;104(3):214-30. (PMID: 21839663); J Inherit Metab Dis. 2011 Apr;34(2):529-38. (PMID: 21305354); Mol Genet Metab. 2008 Jun;94(2):173-7. (PMID: 18294893); Epilepsy Behav. 2011 Mar;20(3):494-501. (PMID: 21292558); Neuropediatrics. 2014 Feb;45(1):64-8. (PMID: 24297574); Hum Mol Genet. 2005 Apr 15;14(8):1077-86. (PMID: 15772097); Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. (PMID: 21704546); Mol Genet Metab. 2008 Aug;94(4):431-4. (PMID: 18485777); Mol Genet Metab. 2008 Feb;93(2):216-8. (PMID: 18024216); Neurology. 2014 Apr 22;82(16):1425-33. (PMID: 24658933); Dev Med Child Neurol. 2014 May;56(5):498-502. (PMID: 24266778); Arch Dis Child Fetal Neonatal Ed. 2008 Mar;93(2):F151-2. (PMID: 18296573). Linking ISSN: 21928304. Subset: PubMed not MEDLINE; Date of Electronic Publication: 2015 Aug 25. Current Imprints: Publication: 2019- : [Hoboken, NJ] : Wiley; Original Imprints: Publication: Berlin : SSIEM and Springer-Verlag, c2011. <br />