cothec / brat4ref

Glucose 6-phosphate dehydrogenase variants: Gd (+) Alexandra associated with neonatal jaundice and Gd (-) Camperdown in a young man with lamellar cataracts.
Two male subjects are described , with unusual clinical presentations and with hitherto undescribed G6PD variants . The first , of Italian extraction , suffered from severe neonatal jaundice following maternal ingestion of fresh broad beans ( Vicia fava ) both prenatally and postnatally  the expression of the enzymatic defect was much more severe in the neonatal period than on retesting in adolescence , when biochemical characterization showed unique features which justify designation as a new variant Gd ( + ) Alexandra . The second patient , a boy of Maltese extraction who was found to have bilateral lamellar cataracts at the age of 4 years , was identified as G6PD deficient only as a result of a survey of children of Mediterranean origin with unexplained cataract formation ; he has approximately 15 % of normal enzyme activity , with another unique combination of biochemical characteristics which has led to its designation as Gd ( - ) Camperdown . Although this association may be coincidental , it prompts further attention to the possibility that under certain circumstances G6PD deficiency may favor cataract formation . The two cases illustrate the value of characterization of the mutant enzyme whenever unexpected clinical or laboratory results are obtained . .