Two Cases of Tetrahydrobiopterin Deficiency.
- Author:
Jee Won CHOI
1
;
Sei Won YANG
;
Hyung Ro MOON
;
Se Chin CHO
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Tetrahydrobiopterin deficiency;
Atypical hyperphenylalaninemia
- MeSH:
Biopterin;
Dopamine Agonists;
Humans;
Intellectual Disability;
Muscle Hypotonia;
Neopterin;
Phenylalanine;
Phenylketonurias*;
Seizures;
Siblings
- From:Journal of the Korean Pediatric Society
1995;38(3):397-403
- CountryRepublic of Korea
- Language:Korean
-
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.
