期刊
MOLECULAR GENETICS AND METABOLISM
卷 115, 期 4, 页码 157-160出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2015.06.009
关键词
Sepiapterin reductase deficiency; Sepiapterin; Tetrahydrobiopterin biosynthesis
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 non-invasive diagnostic tool for children with early onset cryptogenetic developmental delay and/or movement disorder. (C) 2015 Elsevier Inc. All rights reserved.
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