PhosphatemiaChildren with phosphatemic rickets

Phosphatemic Rickets, an X-linked dominant trait

    X-linked hypophosphatemia (XLH) is an X-linked dominant disorder characterized by growth retardation, rickets (softening and weakening of the bones), and hypophosphatemia [too little PO4 in the blood] due to kidney defects in phosphate reabsorption and Vitamin D metabolism. XLH is much less severe in women, as the standard allele on the alternative X chromosome provides some compensation for XLH allele. The responsible gene is
Phex (Phosphate-regulating gene homologous to Endopeptidases on the X chromosome) ( Xp22.2-p22.1).

Figure ©2002 by Griffiths et al.; all text material ©2010 by Steven M. Carr