Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three sisters, each with chondrocalcinosis/arthropathy, are described who have the clinical, laboratory and pathologic findings characteristic of the adult form of hypophosphatasia. Premature loss of adult teeth, arthralgias and pain from bilateral femoral pseudo-fractures were associated with subnormal circulating alkaline phosphatase levels, phosphoethanolaminuria and osteomalacia diagnosed by iliac crest biopsy. Assay of alkaline phosphatase activity in the blood of kindred members revealed hypophosphatasemia in one of two younger brothers. Several subjects in subsequent generations also had suspiciously low alkaline phosphatase activity, but did not have histories of significant dental, bone or joint disease. Review of the medical records of the sisters' parents, aunts and uncles revealed normal alkaline phosphatase levels in their father and five of his siblings, but consistently low levels in their mother and two of her siblings. Despite hypophosphatasemia, the sisters' mother and her siblings lived to old age without clinical or radiographic evidence of bone disease. Our findings suggest that although adult hypophosphatasia can be transmitted as a dominant trait in some kindreds, there is considerable variation in the clinical expression of the biochemical defect. One person, generation or family may manifest clinical bone disease and arthropathy whereas the biochemical defect may be present but remain asymptomatic in others. Furthermore, in some cases, the adult form of hypophosphatasia may represent a developmental disorder with hypophosphatasemia appearing during adulthood.
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PMID:Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. 707 44

Hypophosphatasia is a serious enzymatic defect, where the serum alkaline phosphatase is considerably diminished or completely absent. The urine or serum contain excessive quantities of phosphoethanolamine.. The illness manifests itself with severe disorder of mineralisation in the skeletal system. We report a child with extremely severe manifestations. There was no bony cranial vault and all the extremities were shortened and thick. The alkaline phosphatase was extremely low and the secretion of phosphoethanolamine and proline was considerably increased. The differential diagnosis and the prenatal diagnostics will be mentioned in this case report.
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PMID:Hypophosphatasia congenita letalis. 709 44

Enzyme replacement therapy for a severely affected 6-month-old girl with hypophosphatasia was attempted by repeated intravenous infusions of alkaline phosphatase-rich plasma, obtained by plasmapheresis, from two men with Paget bone disease. Circulating Paget AP activity was found to have a half-life (two days) similar to that reported in adults, which did not change during a five-week period of six AP infusions. Normalization of the patient's serum AP activity was followed by better control of her hypercalcemia and hypercalciuria. Sequential radiographic studies revealed arrest of worsening rickets with slight remineralization of metaphyses, although urinary excretion of the AP substrates phosphoethanolamine and inorganic pyrophosphate was unaltered by therapy. Our findings suggest that the infantile form of hypophosphatasia results from defective production of AP rather than from accelerated destruction of circulating enzyme, and that hydrolysis of AP substrates like PEA and PPi occurs primarily in tissue rather than blood. Study of additional cases of hypophosphatasia will be necessary to assess the clinical efficacy of this form of enzyme replacement therapy.
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PMID:Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. 710 57

This report concerns a family showing both the lethal and mild form of hypophosphatasia in half-sibs. In addition, several other paternal family members with the mild form are documented. The lethal form is characterized by extremely low to absent alkaline phosphatase activity in serum with hypomineralization of the skeleton, whereas mildly affected individuals have enzyme levels intermediate between normal and lethal states. On the basis of this pedigree and because the mildly affected individuals have both biochemical abnormalities and the clinical phenotype of premature tooth loss, we prefer to designate hypophosphatasia as a dominant trait affecting both osteogenesis and cementogenesis which has mild clinical expression in the heterozygote but lethality in the homozygote. This situation resembles the dominantly inherited enzymopathy acute intermittent porphyria.
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PMID:Lethal and mild hypophosphatasia in half-sibs. 713 Mar 55

An autopsy case of hypophosphatasia in lethal form in a fetus was reported. The female fetus of 40 gestational weeks was prenatally diagnosed as the specific type of congenital disease, because of no detection of calcification of whole bones by X-ray examination. Autopsy showed decrease of the anterio-posterior diameter of the chest and marked short extremities. Laboratory data revealed an extreme low value of alkaline phosphatase in the serum. Microscopical examinations showed marked retardation of calcification in the trabecule of whole bones. Family pedigree in second generations suggested that this disease was an autosomal recessive disorder and the parents were heterozygous carriers.
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PMID:Hypophosphatasia. 713 1

Hypophosphatasia is a rare familial disease characterized by abnormalities of the skeleton, low serum alkaline phosphatase level and presence of abnormal quantities of phosphorylethanolamine in plasma and urine. The biochemical bases of inadequate calcification of the bone matrix are unknown. We report the case of a 4 month-old infant who presented symptoms of rickets. Laboratory analysis showed normal serum Ca and P levels, low serum alkaline phosphatase activity, PEA level increased in plasma and urine. X-ray examination of the bones disclosed poor mineralization and the presence of focal defects of the skull. The therapeutic problems are discussed.
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PMID:[A case of hypophosphatasia in an infant]. 717 Feb 20

Two cases of women with adult hypophosphatasia illustrate the clinical spectrum and potential difficulties in the diagnosis of this condition. Both patients had subnormal serum alkaline phosphatase activity, absence of leukocyte alkaline phosphatase, increased amounts of urinary phosphoethanolamine, and normal levels of immunoreactive calcitonin and parathyroid hormone. In undecalcified bone biopsy specimens, the number of osteoblasts and the tetracycline-labeled calcification front were similar in the two patients, although the percentage of unmineralized bone matrix and the extent of osteoid-covered bone surface were different. Twenty years of bone pain, severe skeletal deformities, and a generalized increase of osteoid in one patient contrasted with an 18-month history of bone pain and patchy osteoid in the other. These cases suggest that adult hypophosphatasia is a heterogeneous disorder and may be more common than previously realized.
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PMID:Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. 723 80

A 23-year-old man with primary hyperparathyroidism which was typical except for reduced alkaline phosphatase activity is reported. Histological examination of surgical specimens revealed chief cell hyperplasia of the parathyroid glands. Systemic abnormalities of alkaline phosphatase were demonstrated, i.e., marked reduction of all isoenzymes and undetectable osseous enzyme in the serum, abnormal distribution of the enzyme in hepatocytes and diminished enzyme activities in leukocytes. In addition, diminished bone remodeling activity was revealed in a biopsy specimen of the rib. The association of hypophosphatasia is highly unlikely, because of normal urinary excretion of phosphoethanolamine, lack of osteomalacia, and no indication of an hereditary factor. The causal relationship between low remodeling activity and abnormalities in alkaline phosphatase was suggested.
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PMID:A case of primary hyperparathyroidism with low serum alkaline phosphatase levels. 723 19

An obligate heterozygote for hypophosphatasia, gravida 3, para 2, had previously delivered a female infant who had shortening of the extremities and could not maintain respirations because of the pliability of the thorax. The infant had undermineralization of the skeleton, low serum alkaline phosphatase activity, and increased urinary phosphoethanolamine excretion; autopsy corroborated the diagnosis of congenital lethal hypophosphatasia. For the current pregnancy, uterine sonograms demonstrated adequate growth of the head and limbs, amniotic fluid cell culture showed normal alkaline phosphatase activity; and confirmatory radiographic study showed adequate mineralization of the skeleton. A healthy female infant was delivered. Prenatal diagnosis of congenital hypophosphatasia is available, and the triad of ultrasonography, alkaline phosphatase determination in the amniotic fluid cell culture, and radiography of the fetus is reliable in establishing the diagnosis.
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PMID:Prenatal diagnosis of hypophosphatasia. 724 33

Ishibashi rats, a mutant strain with congenital spinal malformation discovered by Ishibashi in 1968, are generally regarded as an animal model for a human inborn error of spinal malformation. Biochemical values in serum or plasma of Ishibashi rats were compared with those of Wistar-Imamichi rats, and the following results were obtained: 1) In Ishibashi rat sera, alkaline phosphatase activity was significantly lower than that in sera of controls, and an intestinal type of isozyme was hardly detected. 2) All other serum biochemical parameters examined showed no significant difference between Ishibashi and Wistar-Imamichi rats. 3) The data suggest that Ishibashi rats may serve as an animal model of hypophosphatasia in man.
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PMID:[Clinico-biochemical study on Ishibashi rats (author's transl)]. 731 43


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