Tyrosine hydroxylase deficiency with severe clinical course
DI Zafeiriou, MA Willemsen, MM Verbeek… - Molecular genetics and …, 2009 - Elsevier
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive disorder mapped to
chromosome 11p15. 5. Its clinical expression varies with presentations as dopa–responsive
dystonia (recessive Segawa's disease), dopa–responsive infantile parkinsonism, dopa–
responsive spastic paraplegia, progressive infantile encephalopathy or dopa–non-
responsive dystonia. We describe a 7-year-old boy with progressive infantile
encephalopathy and non-responsiveness to dopamine. The patient demonstrated …
chromosome 11p15. 5. Its clinical expression varies with presentations as dopa–responsive
dystonia (recessive Segawa's disease), dopa–responsive infantile parkinsonism, dopa–
responsive spastic paraplegia, progressive infantile encephalopathy or dopa–non-
responsive dystonia. We describe a 7-year-old boy with progressive infantile
encephalopathy and non-responsiveness to dopamine. The patient demonstrated …