Diseases

Tetrahydrobiopterin Deficiency

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Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or bh4. ... Infants withtetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time.

SYMPTOMS

The signs and symptoms of this condition can include:

intellectual disability
progressive problems with development
movement disorders
difficulty swallowing
seizures
behavioral problems and
an inability to control body temperature.

CAUSES

Serotonin helps to regulate mood, appetite, memory, sleep cycles, and certain muscular function. Lack of tetrahydrobiopterin results in a lack of these critical neurotransmitters. The mutations that cause the forms of tetrahydrobiopterin deficiency discussed in this report are inherited as autosomal recessive traits.