Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Alternative Names

  • PNPOD
  • PNPO Deficiency
  • Seizures, Pyridoxine-Resistant, PLP-Sensitive
  • Epileptic Encephalopathy, Neonatal, PNPO-Related
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

610090

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q21.32

Description

PNPOD is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Patients with PNPO mutations tend to respond better to treatment with pyridoxal 5-prime phosphate (PLP) than with pyridoxine. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610090.1.1United Arab EmiratesFemaleYes Seizure; Global developmental delay; Beh... NM_018129.4:c.674G>THomozygousAutosomal, RecessiveFathalla et al. 2018
610090.1.2United Arab EmiratesFemaleYes Seizure; Global developmental delay; Beh... NM_018129.4:c.674G>THomozygousAutosomal, RecessiveFathalla et al. 2018 Sister of 610090.1.1
610090.2United Arab EmiratesMaleYes Seizure... NM_018129.4:c.674G>THomozygousAutosomal, RecessiveFathalla et al. 2018 Patient had a brothe...
610090.3United Arab EmiratesMaleYes Seizure; Global developmental delay (Mil... NM_018129.4:c.674G>THomozygousAutosomal, RecessiveFathalla et al. 2018 Belongs to the same ...
610090.4United Arab EmiratesFemaleYes Seizure; Infantile spasms... NM_018129.4:c.674G>THomozygousAutosomal, RecessiveFathalla et al. 2018 Belongs to the same ...

Other Reports

United Arab Emirates

Fathalla et al. (2018) described a male Emirati patient with neonatal onset of seizures and mild developmental delay. While he was found to carry a homozygous mutation in the PNPO gene, details of the variant were unavailable. The patient belonged to a separate Emirati tribe than the 6 patients outlined in the table above.  

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