Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Sepiapterin reductase deficiency: Report of 5 new cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2017

AlSubhi Sarah, AlShahwan Saad, AlMuhaizae Mohamed, AlZaidan Hamed, Tabarki Brahim

Abstract excerpt

BACKGROUND: Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of neurotransmitter metabolism. CASE REPORT: Five new patients from 3 unrelated Saudi consanguineous families are reported. Symptoms began at 6 months, with delay to diagnosis averaging 8 years. All 5 patients presented with severe symptoms including axial hypotonia, dystonia, and cognitive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alcohol Oxidoreductases
Share to Biopterins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Delayed Diagnosis

Share to Dystonia

Share to Infant

Share to Metabolism, Inborn Errors

Share to Psychomotor Disorders

Share to Pterins

Source

Identifiers

PMID: 28189489
DOI: 10.1016/j.ejpn.2017.01.010

Genes

SPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sepiapterin reductase deficiency: Report of 5 new cases.PMID 28189489Read ↗

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.Semantic proximity Read ↗

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.Semantic proximity Read ↗

Two Greek siblings with sepiapterin reductase deficiency.Semantic proximity Read ↗

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.Semantic proximity Read ↗

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.Semantic proximity Read ↗

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.Semantic proximity Read ↗

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.Semantic proximity Read ↗

Disorders of Tetrahydrobiopterin Metabolism: Experience from South IndiaSemantic proximity Read ↗

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.Semantic proximity Read ↗

Isolated sulfite oxidase deficiency: review of two cases in one family.Semantic proximity Read ↗

Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.