Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary...

Sepiapterin reductase is an enzyme that in humans is encoded by the SPR gene. Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1...

6-Pyruvoyltetrahydropterin synthase deficiency Sepiapterin reductase deficiency Dihydropteridine reductase deficiency The precursor of the neurotransmitter...

is lacking in phenylalanine, well as supplementation of L-DOPA. Sepiapterin reductase Longo N (June 2009). "Disorders of biopterin metabolism". Journal...

disease Leigh syndrome Organic acidemia Sepiapterin reductase deficiency Sydenham's chorea Tyrosine hydroxylase deficiency Wernicke encephalopathy Wilson's disease...

appears to inhibit the cystine-glutamate antiporter, as well as sepiapterin reductase. It is a codrug which is a combination of sulfapyridine and 5-aminosalicylic...

synthase, dihydropteridine reductase, sepiapterin reductase, folate receptor alpha, dihydrofolate reductase, 3-phosphoglycerate dehydrogenase,...

torsion; 602629; THAP1 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; 612716; SPR Dystonia, DOPA-responsive, with or without hyperphenylalainemia;...

cyclohydrolase I (GTPCH), 6-pyruvoyltetrahydropterin synthase (PTPS), and sepiapterin reductase (SR). BH4 can be oxidized by one or two electron reactions, to generate...

Ca2+/calmodulin-dependent protein kinase II and protein kinase C of sepiapterin reductase, the terminal enzyme in the biosynthetic pathway of tetrahydrobiopterin"...