Dopa-Responsive Motor Disorder with Sepiapterin Reductase Deficiency

Abstract

The clinical findings in 7 children from Malta, at first suspected to have cerebral palsy and later diagnosed with sepiapterin reductase deficiency, are reported from Great Ormond Street Hospital, London, UK, and St Luke’s Hospital, University of Malta.

Keywords

• dopa-responsive congenital motor disorder
• sepiapterin reductase deficiency
• tetrahydrobiopterin