Disorders

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Synonym(s): PNPO Deficiency, PNPO-Related Neonatal Epileptic Encephalopathy

Gene	Locus	Protein
PNPO	17q21.32	Pyridoxine-5'-phosphate oxidase

Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
diagenos - Osnabrueck, Germany
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA	• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands	• Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.