Abstract
Disorders of pyridoxine metabolism include pyridoxine-dependent epilepsy (PDE) due to antiquitin (ATQ) deficiency, PDE due to abnormalities in pyridoxal 5′-phosphate (PLP) homeostasis protein (PLPHP deficiency, a PLP-responsive epileptic encephalopathy due to a deficiency of pyridox(am)ine 5′-phosphate oxidase (PNPO deficiency), and tissue nonspecific isoenzyme of alkaline phosphatase deficiency. This chapter focuses primarily on ATQ deficiency, which is the most studied cause of autosomal recessive PDE and is characterized by early onset epileptic encephalopathy resistant to antiepileptic medications but responsive to pharmacologic dosages of pyridoxine, which is a lifelong requirement.
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