What is Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency (SRD) is a rare genetic disorder that affects the production of neurotransmitters in the brain. It is caused by mutations in the SPR gene, which encodes the enzyme sepiapterin reductase. This enzyme is essential for the synthesis of tetrahydrobiopterin (BH4), a cofactor required for the production of several neurotransmitters, including dopamine, serotonin, and norepinephrine.

Individuals with SRD may experience a range of symptoms, including developmental delay, intellectual disability, movement disorders, and behavioral problems. These symptoms can vary in severity and may appear in infancy or early childhood. The diagnosis of SRD is typically confirmed through genetic testing.

Treatment for SRD focuses on managing the symptoms and optimizing neurotransmitter levels. This may involve the use of medications to supplement or replace the deficient neurotransmitters. Early intervention and ongoing support from a multidisciplinary team of healthcare professionals can greatly improve the quality of life for individuals with SRD.

Sepiapterin Reductase Deficiency is a complex condition that requires specialized medical care and ongoing management. If you suspect that you or your loved one may have SRD, it is important to consult with a healthcare professional for proper evaluation and guidance.