Condition: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency


rs104893665 in SPR gene and Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency PMID 17159114 2006 Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

PMID 16650784 2006 Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

PMID 11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

PMID 16049044 2005 Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

PMID 22522443 2012 Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.