Disorders

Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency

Synonym(s): Sepiapterin Reductase Deficiency, SPR Deficiency

Gene	Locus	Protein
SPR	2p14-p12	Sepiapterin reductase

Laboratory	Test Method	Prenatal	Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
CeGaT GmbH - Tuebingen, Germany
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark
Medical Neurogenetics - Atlanta, GA, USA	• Analyte
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte • Enzyme assay

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.