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J Korean Pediatr Soc. 1995 Mar;38(3):397-403. Korean. Case Report.
Choi JW , Yang SW , Moon HR , Cho SC .
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Section of Genetics, Department of Pediatrics, University of Kansas, U.S.A.

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 started at 3 months of their age. Blood amino-acid analysis showed mild hyperphenylalaninemia with elevated urinary neopterin, and reduced urinary biopterin. Their neurologic deteriorations were dramatically improved after replacement of BH4 and dopamine agonist.

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