Two Cases of Tetrahydrobiopterin Deficiency
Journal of the Korean Pediatric Society
; : 397-403, 1995.
Article
em Ko
| WPRIM
| ID: wpr-63416
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenilalanina
/
Fenilcetonúrias
/
Convulsões
/
Biopterinas
/
Agonistas de Dopamina
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Neopterina
/
Irmãos
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Deficiência Intelectual
/
Hipotonia Muscular
Limite:
Humans
Idioma:
Ko
Ano de publicação:
1995
Tipo de documento:
Article