MOLECULAR-BASIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY

The spectrum of mutations causing dihydropteridine reductase is review ed, A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and prema ture terminations. A further two mutations are described which result in aberrant splicing of DHPR transcripts. The application of the mutat ion identification to diagnostics and clinical treatment is discussed. (C) Wiley-Liss, Inc.