Diseases

Tetrahydrobiopterin Deficiency (Bh4 Deficiency)

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

SYMPTOMS

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

CAUSES

6-pyruvoyl tetrahydropterin synthase (ptps) deficiency., Autosomal recessive guanosine triphosphate cyclohydrolase i (gtpch) deficiency.,Pterin-4alpha-carbinolamine dehydratase (pcd) deficiency.