Molecular basis of dihydropteridine reductase deficiency
- 1 January 1995
- journal article
- review article
- Published by Hindawi Limited in Human Mutation
- Vol. 5 (4) , 279-284
- https://doi.org/10.1002/humu.1380050402
Abstract
The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcripts. The application of the mutation identification to diagnostics and clinical treatment is discussed.Keywords
This publication has 14 references indexed in Scilit:
- Prenatal diagnosis of DHPR deficiency by direct detection of mutationPrenatal Diagnosis, 1993
- Identification and in vitro expression of mutations causing dihydropteridine reductase deficiencyBiochemistry, 1993
- Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.Journal of Medical Genetics, 1993
- Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation DetectionPediatric Research, 1992
- Dihydropteridine reductase activity in eluates from dried blood spots: Automation of an assay for a national screening serviceJournal of Inherited Metabolic Disease, 1989
- The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.Journal of Medical Genetics, 1988
- Structure and expression of human dihydropteridine reductase.Proceedings of the National Academy of Sciences, 1987
- Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemiaPrenatal Diagnosis, 1983
- Human dihydropteridine reductase a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1979
- Phenylketonuria Due to a Deficiency of Dihydropteridine ReductaseNew England Journal of Medicine, 1975