title: 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.
authors: Uniting Care Health Clinical School, The Wesley Hospital, Brisbane, QLD, Australia.
authors: J
authors: J
authors: Hatch
authors: Uniting Care Health Clinical School, The Wesley Hospital, Brisbane, QLD, Australia.|Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.|The School of Medicine, The University of Queensland, Brisbane, QLD, Australia.|The School of Medicine, Griffith University, Gold Coast, QLD, Australia.
authors: D
authors: D
authors: Coman
authors: UCL Institute of Child Health, London, UK.
authors: P
authors: P
authors: Clayton
authors: UCL Institute of Child Health, London, UK.
authors: P
authors: P
authors: Mills
authors: The School of Medicine, The University of Queensland, Brisbane, QLD, Australia.|Neurosciences Unit, The Lady Cilento Children's Hospital, 501 Stanley Street, South Brisbane, 4101, QLD, Australia.
authors: S
authors: S
authors: Calvert
authors: Department of Neurology, The Children's Hospital Westmead, Sydney, NSW, Australia.|Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
authors: R I
authors: RI
authors: Webster
authors: Uniting Care Health Clinical School, The Wesley Hospital, Brisbane, QLD, Australia. kate.riney@health.qld.gov.au.|The School of Medicine, The University of Queensland, Brisbane, QLD, Australia. kate.riney@health.qld.gov.au.|Neurosciences Unit, The Lady Cilento Children's Hospital, 501 Stanley Street, South Brisbane, 4101, QLD, Australia. kate.riney@health.qld.gov.au.
authors: Kate
authors: K
authors: Riney