All issues > Volume 38(3); 1995

Case Report

J Korean Pediatr Soc. 1995;38(3):397-403. Published online March 15, 1995.

Two Cases of Tetrahydrobiopterin Deficiency

Jee Won JW Choi¹, Sei Won SW Yang¹, Hyung Ro HR Moon¹, Se Chin SC Cho²

¹Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
²Section of Genetics, Department of Pediatrics, University of Kansas, U.S.A.

Abstract

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.

Keywords :Tetrahydrobiopterin deficiency, Atypical hyperphenylalaninemia