منابع مشابه
Distribution of alkaline phosphatase in the serum proteins in hypophosphatasia.
A patient with hypophosphatasia and her relatives, including an affected brother, were studied with regard to serum alkaline phosphatase levels, phosphoethanolamine excretion, leucocyte alkaline phosphatase, blood group genes, and alkaline phosphatase distribution in the serum protein fractions. The pattern of alkaline phosphatase distribution in the serum protein fractions was normal both in t...
متن کاملPhysiological role of alkaline phosphatase explored in hypophosphatasia.
Hypophosphatasia (HPP) is the instructive rickets or osteomalacia caused by loss-of-function mutation(s) within TNSALP, the gene that encodes the "tissue nonspecific" isoenzyme of alkaline phosphatase (TNSALP). HPP reveals a critical role for this enzyme in skeletal mineralization. Increased extracellular levels of pyridoxal 5'-phosphate and inorganic pyrophosphate (PP(i)) demonstrate that TNSA...
متن کاملRelationship 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 o...
متن کاملCould Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
OBJECTIVE Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is nonspecific leading to delayed or missed diagnosis. Low alkaline phosphatase (ALP) is a diagnostic test. Unlike high ALP, low level is commonly not flagged by laboratories as abnormal. A new treatment was shown to be effective in HPP. In this study we aimed to establis...
متن کاملMarkedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
Markedly increased circulating concentrations of pyridoxal-5'-phosphate (PLP) were found in each of 14 patients representing all clinical forms of hypophosphatasia, an inborn error characterized by deficient activity of the tissue nonspecific (bone/liver/kidney) isoenzyme of alkaline phosphatase (AP). The mean PLP concentration in plasma was 1174 nM (range, 214-3839 nM) in the patients and 57 +...
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ژورنال
عنوان ژورنال: Calcified Tissue International
سال: 2015
ISSN: 0171-967X,1432-0827
DOI: 10.1007/s00223-015-0079-1