TH-deficient progressive infantile encephalopathy

TH-deficient progressive infantile encephalopathy is a rare condition noted for a deficiency in the enzyme tyrosine hydroxylase. This enzyme plays a key role in converting dietary components into important brain chemicals. As a result, individuals with this condition can experience severe neurological challenges that begin in infancy. The condition is characterized by its impact on brain function from an early age. People with this condition are extremely sensitive to levodopa therapy, a treatment that is sometimes used to manage symptoms in related conditions. However, the sensitivity to levodopa in TH-deficient progressive infantile encephalopathy often leads to intolerable dyskinesias, or involuntary movements, which makes managing the condition with this treatment particularly challenging.

Information about symptoms is currently limited for this condition.

The condition is caused by a deficiency in the enzyme tyrosine hydroxylase. This deficiency disrupts the normal production of certain chemicals in the brain that are important for neurological function. Specific genetic details beyond this enzyme deficiency are not provided in the available sources.

Treatment for TH-deficient progressive infantile encephalopathy often involves the administration of levodopa therapy. However, many individuals are extremely sensitive to this treatment, and its use is frequently limited by the development of intolerable dyskinesias, which are involuntary movements that can be distressing. This sensitivity makes managing the condition with levodopa challenging.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.