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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia.

1. Hypophosphatasia is a disorder characterized by low serum levels of alkaline phosphatase (ALP) and a range of skeletal deformities. The levels of a number of phosphorylated metabolites, namely phosphoethanolamine and pyrophosphate, are characteristically raised. Levels of pyridoxal-5'-phosphate ( PLP) have also been reported to be raised. 2. Hypophosphatasia is a rare disease and experience of measuring PLP in patients is lacking. We have had the chance to look at PLP levels in four families with hypophosphatasia, specifically to examine the quantitative relationship between ALP and PLP which has not been described before. 3. We confirmed that PLP levels are raised in hypophosphatasia and related to the disease severity. A significant negative linear relationship was found between the log PLP and log ALP (log PLP = 5.99-2.76 log ALP; r = -0.85, P < 0.001). 4. Measurement of PLP is simpler than some of the phosphorylated compounds, e.g. pyrophosphate. PLP may be a useful measure in patients with a suspected diagnosis of hypophosphatasia or for screening family members to detect potential heterozygotes and to monitor any response to therapy. 5. There did not appear to be any adverse clinical effects in relation to disturbed vitamin B6 metabolism in hypophosphatasia. 6. Vitamin B6 is used therapeutically in a number of conditions with monitoring of PLP levels. In these conditions PLP levels should be interpreted in conjunction with the prevailing serum ALP levels as the metabolism of these compounds is closely inter-related.[1]


  1. Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia. Iqbal, S.J., Brain, A., Reynolds, T.M., Penny, M., Holland, S. Clin. Sci. (1998) [Pubmed]
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