Back to Search
Start Over
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
- Source :
-
Annales de biologie clinique [Ann Biol Clin (Paris)] 2002 Mar-Apr; Vol. 60 (2), pp. 165-71. - Publication Year :
- 2002
-
Abstract
- Tetrahydrobiopterin deficiency in hyperphenylalaninemic babies has to be rapidly recognized since the disease requires a specific follow-up. Based on specimen collection on filter paper, a simple strategy for the screening of this condition has been used since 1987. Urine pteridine measurement can detect 6-pyruvoyl-tetrahydropterin synthase, GTPcyclohydrolase I and pterin-4a-carbinolamine dehydratase deficiencies and direct enzyme measurement in dried blood sample detects dihydropteridine-reductase deficiency. A total of 1,814 hyperphenylalaninemic patients have been studied and 34 tetrahydrobiopterin deficiencies have been detected. The strategy must commend itself by its convenience and simplicity, and can be use on all babies with hyperphenylalaninemia screened in the neonatal period, whatever their blood phenylalanine level.
- Subjects :
- Diagnosis, Differential
Dihydropteridine Reductase metabolism
GTP Cyclohydrolase deficiency
Humans
Hydro-Lyases deficiency
Infant, Newborn
Liver enzymology
Phosphorus-Oxygen Lyases deficiency
Pteridines urine
Biopterins analogs & derivatives
Biopterins deficiency
Neonatal Screening methods
Phenylalanine blood
Phenylketonurias diagnosis
Subjects
Details
- Language :
- French
- ISSN :
- 0003-3898
- Volume :
- 60
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Annales de biologie clinique
- Publication Type :
- Academic Journal
- Accession number :
- 11937441