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American Journal of Clinical Nutrition, Vol 53, 698-701, Copyright © 1991 by The American Society for Clinical Nutrition, Inc

ORIGINAL RESEARCH COMMUNICATIONS

Extremely low serum pyridoxal 5'-phosphate in children with familial hypophosphatemic rickets

RD Reynolds, RS Lorenc, E Wieczorek and E Pronicka
Vitamin and Mineral Nutrition Laboratory, Beltsville Human Nutrition Research Center, US Department of Agriculture, MD 20705.

The apparent vitamin B-6 status of 31 children with familial hypophosphatemic rickets (FHR) was determined. All children had alkaline phosphatase activity that was high-normal to elevated for their ages. A sensitive assay for pyridoxal 5'-phosphate (PLP) indicated that 15 of the 31 children had an undetectable (less than 0.2 nmol/L) concentration of the vitamer--the lowest values yet reported in human serum. The 16 remaining children had concentrations of the vitamer so low that they indicated a potential severe vitamin B-6 deficiency. However, none of the children had ever presented with any of the classical vitamin B-6-deficiency symptoms. Treatment of three additional FHR children with 100 mg pyridoxine.HCl/d resulted in a moderate and transient elevation of their serum PLP concentrations, a dramatic elevation of their erythrocyte PLP concentrations, and no improvement in clinical condition. Serum or plasma PLP concentrations are an inappropriate index for determining vitamin B-6 status in people with FHR and perhaps in others with elevated alkaline phosphatase activity.


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