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Tetrahydrobiopterin(BH4) deficiency is a rare type of hyperphenylalaninemia and usually leads to a progressive neurologic deterioration despite early dietary control of blood phenylalanine concentration.
We experienced two cases of BH4 deficiency in brother and sister, confirmed by biochemical study of blood and urine. They had suffered from a progressive neurologic illness such as mental retardation, severe hypotonia, seizure, and athetotic movements... |
