until further notice
SourceMolecular Genetics and Metabolism, 94, 4, (2008), pp. 431-4
Article / Letter to editor
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Molecular Genetics and Metabolism
SubjectDCN 1: Perception and Action; DCN 3: Neuroinformatics; IGMD 4: Glycostation disorders; NCMLS 4: Energy and redox metabolism; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism
The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene revealed a novel homozygous c.284G>A transition in exon 3, resulting in arginine to histidine substitution and reduced activity of the PNPO mutant to 18% relative to the wild type. This finding enabled molecular prenatal diagnosis in a subsequent pregnancy, accurate genetic counseling in the large inbred family, and population screening.
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