Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.

Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.

Dopa-responsive dystonia as a result of sepiapterin reductase deficiency (OMIM#612716) is brought on by recessive mutations in the gene encoding sepiapterin reductase (SPR), which performs an essential position in the biosynthesis of tetrahydrobiopterin (BH4). One Jordanian affected person to first cousin mother and father is reported in this study. The mother and father of the …

Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. Read More »