Clinical Use of CSF Neurotransmitters.
Boston, United States. In Pediatr Neurol, Oct 2015
CONCLUSIONS: Lumbar puncture is required to detect abnormal cerebrospinal fluid metabolites in a significant proportion of these disorders, including treatable entities such as dopa-responsive deficiencies of guanosine-5'-triphosphate cyclohydrolase I (Segawa disease), sepiapterin reductase, and tyrosine hydroxylase.
Sepiapterin Reductase Deficiency
Seattle, United States. In Unknown Journal, Aug 2015
DIAGNOSIS/TESTING: The diagnosis of sepiapterin reductase deficiency is established in a proband by detection of biallelic pathogenic variants in SPR on molecular genetic testing or characteristic abnormalities of CSF neurotransmitters and pterins.
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Houston, United States. In Nat Rev Neurol, Jul 2015
Autosomal dominant GTP cyclohydrolase 1 deficiency, also known as Segawa disease, is the most common and best-characterized condition that manifests as DRD, but a similar presentation can be seen with genetic abnormalities that lead to deficiencies in tyrosine hydroxylase, sepiapterin reductase or other enzymes that are involved in the biosynthesis of dopamine.
Monoamine neurotransmitter deficiencies.
Washington, D.C., United States. In Handb Clin Neurol, 2012
These include Segawa dopa-responsive dystonia and enzymatic deficiencies of aromatic amino acid decarboxylase, tyrosine hydroxylase, and sepiapterin reductase.