Article
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Clinical genetics - 1 Jan 2021
Alghamdi Malak, Bashiri Fahad A, Abdelhakim Marwa, Adly Nouran, Jamjoom Dima Z, Sumaily Khalid M, Alghanem Bandar, Arold Stefan T
Abstract excerpt
Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5'-phosphate (PLP)-vitamin-responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Pre-maturity and fetal distress, combined with neonatal seizures, are other associated key characteristics. The phenotype results from a dependency of PLP...
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