| Two Cases of Tetrahydrobiopterin Deficiency |
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Jee Won Choi1, Sei Won Yang1, Hyung Ro Moon1, Se Chin Cho2 |
1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
2Section of Genetics, Department of Pediatrics, University of Kansas, U.S.A. |
| Tetrahydrobiopterin 결핍증 2례 |
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최지원1, 양세원1, 문형로1, Se Chin Cho2 |
1서울대학교 의과대학 소아과학교실
2Section of Genetics, Department of Pediatrics, University of Kansas, U.S.A. |
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| Abstract |
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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 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. |
| Key Words:
Tetrahydrobiopterin deficiency, Atypical hyperphenylalaninemia |
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