Tyrosine hydroxylase gene is mapped on chromosome 11p15 that plays important functions in the conversion of amino acid L-tyrosine to L-DOPA using molecular oxygen and iron as co-factors. It is an enzyme present in the central nervous system, peripheral symphaticneurons and adrenal medulla.
Tyrosine hydroxylase gene mutations lead to deficiency since this enzyme provides instruction that is important for normal functioning of the nervous system taking part in the pathway that generates chemical hormones which helps to convert amino acid tyrosine to catecholamine that eventually formed dopamine, a protein that transmit signals to help the brain controls physical movement and emotional behavior. Moreover this catecholamine also assists in norepinephrine and epinephrine produced from dopamine involved in the autonomic nervous system thus, less production of dopamine, norepinephrine and epinephrine contributes to the abnormal movements, autonomic dysfunction and neurological problems.
Tyrosine hydroxylase deficiency usually appears during childhood showing disorder in movement wherein individual exhibit abnormal limb positioning and lack of coordination in walking or running. It is also associated in movement problems like shaking when griping objects andinvoluntary upward rolling movements of the eyes. The harsh form of tyrosine hydroxylase deficiency linked with infantile Parkinson's disease and encephalopathy which appears soon after birth and more difficult to treat hence, these conditions inherited in an autosomal recessive pattern in which both copies of genes in each cell undergo mutations.
Gene name: TH
Protein name: Tyrosine 3-monooxygenase