What is Tyrosine Hydroxylase Deficiency

Tyrosine Hydroxylase Deficiency (THD) is a rare genetic disorder that affects the production of certain neurotransmitters in the brain. It is an autosomal recessive disorder, meaning that both parents must carry a mutated gene for their child to inherit the condition.

Tyrosine hydroxylase is an enzyme responsible for converting the amino acid tyrosine into a precursor of several neurotransmitters, including dopamine, norepinephrine, and epinephrine. In individuals with THD, the enzyme is either partially or completely non-functional, leading to a deficiency in these neurotransmitters.

The symptoms of THD can vary widely, but commonly include developmental delays, movement disorders, low muscle tone, and autonomic dysfunction. Some individuals may also experience behavioral problems, intellectual disability, and psychiatric symptoms.

Diagnosis of THD involves genetic testing to identify mutations in the tyrosine hydroxylase gene. Treatment options are limited and mainly focus on managing the symptoms. Medications may be prescribed to help alleviate specific symptoms, such as dopamine replacement therapy for movement disorders.

Overall, Tyrosine Hydroxylase Deficiency is a complex disorder that requires ongoing medical management and support to optimize the quality of life for affected individuals.