gtp cyclohydrolase i การใช้

Not all patients show mutations in the GCH1 gene ( GTP cyclohydrolase I ), which makes genetic testing imperfect.
Mutations in this gene are associated with malignant phenylketonuria ( PKU ) and hyperphenylalaninemia ( HPA ), as well as GTP cyclohydrolase I deficiency.
The dominant form, with mutation in only one of the two alleles for GTP cyclohydrolase I, causes dopamine-responsive dystonia, characterized by childhood-onset dystonia.
Deficiency of GTP cyclohydrolase I can occur in a recessive and in a dominant form and lead to a lack of certain neurotrasmitters ( dopamine, norepinephrine, epinephrine and serotonin ).
Patients with the recessive form have mutations in both alleles for GTP cyclohydrolase I . Patients present with developmental delays and neurological dysfunction with trunk hypotonia, hypertonia of the extremities, abnormal movements, tremors, convulsions, and sometimes autonomic dysfunction.