Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.

Abstract

Sepiapterin reductase deficiency (SRD) causes depletion of biogenic amines in the brain, early onset motor disorder, and intellectual disability. The diagnostic marker for this rare disease is increased sepiapterin and biopterin in CSF. Through a new analytic methodology we demonstrated accumulation of sepiapterin in urine of four SRD patients several times greater than that found in healthy controls and carriers, regardless of age or treatment. Our findings suggest a new interpretation of current theories of peripheral pterin metabolism and provide a new noninvasive diagnostic tool for children with early onset cryptogenetic developmental delay and/or movement disorder.

• Authors: Claudia Carducci, Silvia Santagata, Jennifer Friedman, Elisabetta Pasquini, Carla Carducci, Manuela Tolve, Antonio Angeloni, Vincenzo Leuzzi
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 115 Issue 4 Pg. 157-60 (Aug 2015) ISSN: 1096-7206 [Electronic] United States
• PMID: 26123188 (Publication Type: Journal Article)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Chemical References

• Biomarkers
• Pterins
• sepiapterin

Topics

• Biomarkers (urine)
• Dystonia (diagnosis, urine)
• Humans
• Infant
• Metabolism, Inborn Errors (diagnosis, urine)
• Prognosis
• Psychomotor Disorders (diagnosis, urine)
• Pterins (urine)