Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Also Known As:

Epileptic Encephalopathy, Neonatal, PNPO-Related; PNPO Deficiency; PNPO-Related Neonatal Epileptic Encephalopathy; Pyridoxal 5'-Phosphate-Dependent Epilepsy; Pyridoxine-5'-Phosphate Oxidase Deficiency; Seizures, Pyridoxine-Resistant, PLP-Sensitive

Networked: 42 relevant articles (3 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Seizures (Absence Seizure)
2.	Infantile Spasms (West Syndrome)
3.	Brain Diseases (Brain Disorder)
4.	Epilepsy (Aura)
5.	Hypophosphatasia

Experts

1.	Plecko, Barbara: 6 articles (01/2016 - 08/2009)
2.	Hyland, Keith: 5 articles (01/2015 - 06/2008)
3.	Clayton, Peter: 4 articles (11/2021 - 06/2008)
4.	Contestabile, Roberto: 4 articles (11/2021 - 01/2017)
5.	Tramonti, Angela: 4 articles (11/2021 - 01/2017)
6.	di Salvo, Martino L: 4 articles (11/2021 - 01/2017)
7.	Mastrangelo, Mario: 4 articles (11/2019 - 01/2017)
8.	Clayton, Peter T: 4 articles (01/2017 - 01/2013)
9.	Mills, Philippa B: 4 articles (01/2017 - 01/2013)
10.	Albersen, Monique: 3 articles (01/2020 - 01/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency:

1.	Pyridoxine (Pyridoxin)FDA LinkGeneric 05/01/2014 - "It is possible that pyridoxine responsiveness in PNPO deficiency is affected by prematurity and age at the time of the therapeutic trial. " 01/01/2021 - "Complexities of pyridoxine response in PNPO deficiency." 05/01/2014 - "These observations indicate that differential responses to pyridoxine and pyridoxal-5'-phosphate treatment cannot be relied upon to diagnose PNPO deficiency. " 01/01/2013 - "Transient pyridoxine responsiveness may be seen in partial PNPO deficiency. " 01/01/2013 - "We describe partial PNPO deficiency with a transient response to pyridoxine (B6). "
2.	Oxidoreductases (Dehydrogenase)IBA 01/01/2023 - "To summarize the clinical and genetic characteristics of patients with pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency. " 01/01/2023 - "Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency." 01/01/2017 - "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation." 01/01/2017 - "To analyze the clinical and genetic characteristics of Chinese patients with pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency. " 01/01/2013 - "We show that patients with inborn errors of B(6) metabolism such as pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency have characteristic B(6) profiles which allow them to be differentiated from each other and control populations, even when on treatment with B(6). "
3.	PyridoxamineIBA 01/01/2019 - "Pyridoxamine Supplementation Effectively Reverses the Abnormal Phenotypes of Zebrafish Larvae With PNPO Deficiency." 05/01/2014 - "Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment." 01/01/2019 - "Remarkably, pyridoxamine (PM), another dietary form of vitamin B6, showed rescue effects even at a lower concentration than PLP, presenting a possible new therapeutic treatment for PNPO-deficiency NEE. " 03/01/2016 - "Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. " 01/01/2014 - "We report the case of an 8-year-old boy with pyridoxamine 5'-phosphate oxidase (PNPO) deficiency. "
4.	Vitamin B 6IBA 01/01/2016 - "High plasma PM concentration was found in all patients with PNPO deficiency irrespective of vitamin B6 supplementation. " 01/01/2019 - "Remarkably, pyridoxamine (PM), another dietary form of vitamin B6, showed rescue effects even at a lower concentration than PLP, presenting a possible new therapeutic treatment for PNPO-deficiency NEE. " 01/01/2013 - "In PNPO deficiency, samples have to be collected prior to treatment, while PDE, hyperprolinemia type II and congenital HPP can be diagnosed while on vitamin B6 supplementation. " 11/01/2019 - "Introduction: Vitamin B6 dependent epilepsies are a group of treatable diseases (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects) responding to pyridoxine or pyridoxal-5I-phosphate. " 01/01/2016 - "We evaluated the vitamin B6 vitamers pyridoxal 5'-phosphate (PLP), pyridoxal (PL), pyridoxamine (PM), pyridoxine (PN) and the catabolite pyridoxic acid (PA) in the so far largest patient cohort: reference (n = 50); pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (n = 6); antiquitin (ATQ) deficiency (n = 21); tissue non-specific alkaline phosphatase (TNSALP) deficiency (n = 2) and epileptic encephalopathy (EE) of unknown etiology tested negative for ATQ and PNPO deficiency (n = 64). "
5.	PyridoxalIBA 01/01/2015 - "In conclusion, a normal CSF level of pyridoxal 5'-phosphate does not rule out PNPO deficiency." 06/01/2008 - "Pyridoxal 5'-phosphate concentrations in 4 patients with PNPO deficiency were determined. " 06/01/2008 - "Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients." 01/01/2015 - "Neonatal epileptic encephalopathy and a low cerebrospinal fluid (CSF) pyridoxal 5'-phosphate level are the reported hallmarks of PNPO deficiency, but its clinical and biochemical spectra are not fully known. " 03/01/2013 - "PNPO deficiency is associated with decreased levels of pyridoxal 5'-phosphate in CSF, as well as epilepsy. "
6.	VitaminsIBA 02/01/2014 - "Pyridoxal-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive, vitamin-responsive metabolic disorder causing refractory neonatal seizures that respond to the administration of pyridoxal-5'-phosphate (PLP). " 01/01/2022 - "Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6-dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency, and PLPBP deficiency. " 11/01/2019 - "Vitamin B6-responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs. " 11/06/2021 - "Several variants of the enzyme pyridox(am)ine 5'-phosphate oxidase (PNPO), responsible for a rare form of vitamin B6-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. " 01/01/2021 - "Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5'-phosphate (PLP)-vitamin-responsive epileptic encephalopathy. "
7.	Phosphates (Orthophosphate)IBA 09/01/2011 - "Commencing treatment with PLP will not delay treatment in patients with pyridox(am)ine phosphate oxidase (PNPO) deficiency who are responsive to PLP only." 01/01/2013 - "Autosomal-recessive pyridox(am)ine phosphate oxidase (PNPO) deficiency causes pyridoxal-5-phosphate (PLP)-dependent epilepsy. " 01/01/2021 - "Methods: We analyzed data from an unpublished cohort of 28 genetically confirmed cases of PDE with antiquitine (ATQ) deficiency and performed a review of the literature looking for description of West syndrome in patients with either PDE with ATQ deficiency or PLP-dependent epilepsy with Pyridox(am)ine phosphate oxidase (PNPO) deficiency. " 08/01/2009 - "Two are caused by reduced synthesis/availability of PLP (Pyridox(am)in-phosphate oxidase (PNPO) deficiency and infantile hypophosphatasia) and two by increased utilization/inactivation (pyridoxine-dependent epilepsy and hyperprolinemia type II). " 01/01/2020 - "Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox."
8.	Biomarkers (Surrogate Marker)IBA 01/01/2016 - "The plasma PM/PA ratio thus represents a robust biomarker for the selective screening of PNPO deficiency." 03/01/2013 - "Low CSF pyridoxal 5'-phosphate levels, although considered a diagnostic biomarker for PNPO deficiency, lack specificity and may result from multiple other causes. " 01/01/2023 - "Research has unraveled specific biomarkers for several of these entities (PNPO deficiency, ALDH7A1 deficiency, ALDH4A1 deficiency, ALPL deficiency causing congenital hypophosphatasia and glycosylphosphatidylinositol anchoring defects with hyperphosphatasia), that can be detected in plasma or urine, while there is no biomarker to test for PLPHP deficiency. " 03/01/2011 - "We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. "
9.	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/01/2023 - "Research has unraveled specific biomarkers for several of these entities (PNPO deficiency, ALDH7A1 deficiency, ALDH4A1 deficiency, ALPL deficiency causing congenital hypophosphatasia and glycosylphosphatidylinositol anchoring defects with hyperphosphatasia), that can be detected in plasma or urine, while there is no biomarker to test for PLPHP deficiency. " 11/01/2019 - "Introduction: Vitamin B6 dependent epilepsies are a group of treatable diseases (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects) responding to pyridoxine or pyridoxal-5I-phosphate. " 03/15/2023 - "Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). "
10.	EnzymesIBA 01/01/2017 - "We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). " 11/06/2021 - "Several variants of the enzyme pyridox(am)ine 5'-phosphate oxidase (PNPO), responsible for a rare form of vitamin B6-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. "

Therapies and Procedures

1.	Liver Transplantation 01/01/2016 - "PNPO deficiency may in time prove to be a suitable candidate for consideration of therapeutic orthotropic liver transplantation in select patients."
2.	Drug Therapy (Chemotherapy) 01/01/2019 - "These results suggest zebrafish to be a promising PNPO-deficiency model for studying PLP homeostasis and drug therapy in vivo."
3.	Treatment Delay 09/01/2011 - "Commencing treatment with PLP will not delay treatment in patients with pyridox(am)ine phosphate oxidase (PNPO) deficiency who are responsive to PLP only."