PTS : 6-pyruvoyltetrahydropterin synthase

The PTS Gene: A Blueprint for Tetrahydrobiopterin Synthesis

Description:

The PTS gene carries the blueprint for producing an enzyme called 6-pyruvoyltetrahydropterin synthase, a key player in the production of tetrahydrobiopterin (BH4). BH4, a crucial molecule in the body, serves as a cofactor that facilitates chemical reactions carried out by enzymes.

Associated Diseases:

Mutations in the PTS gene can disrupt the production of BH4, leading to conditions known as BH4 deficiencies. These deficiencies can manifest in various diseases, including:

• Phenylketonuria (PKU): PKU is characterized by the body‘s inability to convert phenylalanine into tyrosine due to a lack of BH4. This can lead to intellectual disability if left untreated.

• Tyrosine Hydroxylase Deficiency (THD): THD results from insufficient BH4 production, which impedes the production of neurotransmitters like dopamine and norepinephrine. Symptoms may include movement disorders, intellectual disability, and respiratory difficulties.

• Neurotransmitter Biosynthesis Disorders: BH4 is essential for the synthesis of neurotransmitters such as dopamine, serotonin, and norepinephrine. Dysfunctional BH4 production can disrupt neurotransmitter signaling, leading to various neurological conditions.

Did you Know ?

BH4 deficiency, caused by mutations in the PTS gene, affects approximately 1 in 120,000 newborns worldwide. Early detection and treatment are crucial to prevent severe complications in infants.