ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary We report a child in whom dihydropteridine reductase deficiency was diagnosed prenatally because of an affected sibling and who was treated from birth with apparent good response. This family has been reported before (Firgairaet al., 1980, 1981, 1983; Lipsonet al., 1984; Cottonet al., 1986; Dahlet al., 1988). The parents are Lebanese Muslims who are first cousins, and their first and third children, both male, are well. The third child was diagnosed as normalin utero (Firgairaet al., 1983). The second child, the subject of an early report (Lipsonet al., 1984), has dihydropteridine reductase deficiency. The dihydropteridine reductase is non-functional due to an amino acid insertion (Howellset al., 1990).
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01804388
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