Tetrahydrobiopterin (BH4) deficiency is a rare genetic disorder that affects the production and recycling of a molecule called tetrahydrobiopterin. BH4 is essential for the production of several important neurotransmitters, including dopamine, serotonin, and norepinephrine.
Symptoms: The symptoms of BH4 deficiency can vary widely depending on the specific gene mutation and the severity of the condition. Common symptoms include developmental delay, intellectual disability, movement disorders, seizures, and behavioral problems. Some individuals may also experience problems with the regulation of body temperature, blood pressure, and blood sugar levels.
Diagnosis: BH4 deficiency is typically diagnosed through a combination of clinical evaluation, genetic testing, and biochemical analysis of blood and urine samples.
Treatment: Treatment for BH4 deficiency involves lifelong supplementation with synthetic BH4, along with a carefully managed diet. This can help to alleviate symptoms and improve the production of neurotransmitters.
Prognosis: The prognosis for individuals with BH4 deficiency can vary depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and intervention can greatly improve outcomes and quality of life.