Tyrosine hydroxylase deficiency (THD)
Evidence-based neurology checklist on tyrosine hydroxylase deficiency (thd): Genetics and pathology This is caused by missense mutations of the tyrosine hydroxylase (TH) gene This impairs the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-dopa) The transmission is autosomal recessive…
Genetics and pathology
- This is caused by missense mutations of the tyrosine hydroxylase (TH) gene
- This impairs the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-dopa)
- The transmission is autosomal recessive
Phenotypes
Clinical features of dopamine deficiency
Clinical features of norepinephrine deficiency
Cerebrospinal fluid (CSF) analysis
Magnetic resonance imaging (MRI) brain
Treatment
References
- Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VS, Earl J, Wilcken B. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Mov Disord 2002; 17:354-359.
- Willemsen MA, Verbeek MM, Kamsteeg E-J, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010; 133:1810-1822.
