Very early pattern of movement disorders in sepiapterin reductase deficiency

Abstract

Sepiapterin reductase deficiency (SRD; Online Mendelian Inheritance in Man *182125) is a rare disorder of biogenic amines synthesis caused by mutations of the SPR gene on chromosome 2p14-p12.1 The most common presenting symptoms of SRD are developmental delay and axial hypotonia.2 The few patients observed during the very early stage of the disease suggested a peculiar pattern of neurologic impairment.3,4 With the aim of contributing to this topic, we report on a new case diagnosed and treated since the first months of life.