Two Cases of Tetrahydrobiopterin Deficiency
Journal of the Korean Pediatric Society
;
: 397-403, 1995.
Article
in Korean
| WPRIM
| ID: wpr-63416
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenylalanine
/
Phenylketonurias
/
Seizures
/
Biopterins
/
Dopamine Agonists
/
Neopterin
/
Siblings
/
Intellectual Disability
/
Muscle Hypotonia
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
1995
Type:
Article
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