PCBD Deficiency (Biopterin Deficiency)

Pterin-carbinolamine dehydratase deficiency (PCBD) is a disorder of tetrahydrobiopterin metabolism. Tetrahydrobipterin plays a role as a cofactor in Phenylalanine, L-Dopa and Serotonin metabolism. Thus deficiencies are mostly associated with hyperphenylalaninemia, and deficiency of Dopamine and Serotonine. Unless diagnosed by newborn screening via high blood phenylalanine levels, patients develop neurological problems within the first year of life, including progressive developmental delay, seizures, microcephaly, and Parkinsonian dystonia. Episodes of irritability, lethargy, poor temperature control and other vegetative dysfunctions are common in severe cases. PCBD deficiency is the mildest form of all tertrahydrobiopterin deficiency disorders and symptoms may be transient.

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