Tetrahydrobiopterin Deficiencies

What is Tetrahydrobiopterin (BH4) Deficiency?

Tetrahydrobiopterin (BH4) is an important molecule our body needs for many reactions, including making the neurotransmittors serotonin, dopamine, and norepinephrine. BH4 Deficiency is a rare genetic disorder in which the body doesn’t have enough BH4 to function properly. This leads to a wide range of problems, including: depression, low energy, poor concentration, difficulty sleeping, gastrointestinal issues, or fatigue. It can also lead to physical health problems, such as low blood pressure, muscle weakness, or heart issues.

Symptoms of Tetrahydrobiopterin (BH4) Deficiency

People with Tetrahydrobiopterin (BH4) Deficiency experience a variety of symptoms ranging from physical health problems to mental health issues. Common symptoms include:

  • Depression
  • Low energy
  • Poor concentration
  • Difficulty sleeping
  • Gastrointestinal issues
  • Fatigue
  • Low blood pressure
  • Muscle weakness
  • Heart issues

Diagnosis of Tetrahydrobiopterin (BH4) Deficiency

Tetrahydrobiopterin (BH4) Deficiency can be difficult to diagnose. That's because the symptoms can be similar to other conditions and the disorder is very rare, so few medical professionals are familiar with it. If your doctor suspects you may have BH4 Deficiency, they will likely order a blood test to measure the amount of BH4 in your body. This test is known as a homocysteine level test.

Treatment of Tetrahydrobiopterin (BH4) Deficiency

Tetrahydrobiopterin (BH4) Deficiency can be treated with supplements or injections of BH4. These treatments will help to restore the normal levels of BH4 in the body. In addition, lifestyle changes can make a difference. Eating a healthy diet, getting enough sleep, and exercising regularly can all help to reduce symptoms.