Sepiapterin Reductase Deficiency: Mimic of Cerebral Palsy

Abstract

Researchers at University of California at San Diego, and 22 other US national and international centers studied the clinical, biochemical, and molecular findings in a cohort of 38 patients with sepiapterin reductase deficiency (SRD).

Keywords

• axial hypotonia
• dystonia
• oculogyric crises