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• W1640252537 endingPage "1598" @default.
• W1640252537 startingPage "1573" @default.
• W1640252537 abstract "Publisher Summary This chapter focuses on the role of alkaline phosphatase (ALP) in hypophosphatasia. ALPs are found in nearly all plant and animal species and in humans, four ALP isoenzymes are encoded by four separate genes. Three of the isoenzymes are expressed in a tissue-specific distribution and are called intestinal, placental, and germ cell (placental-like) ALP. The fourth ALP isoenzyme is ubiquitous, but is especially abundant in hepatic, skeletal, and renal tissue (liver/bone/kidney ALP) and is known as tissue-nonspecific ALP (TNSALP). The TNSALP gene is located near the end of the short arm of chromosome 1 and is greater than 50 kb and contains 12 exons, 11 of which are translated to form the 507 amino acid nascent enzyme. Despite the presence of relatively high levels of TNSALP in bone, liver, kidney, and adrenal tissue in healthy individuals the effect of hypophosphatasia centers on the skeleton and dentition. The most pernicious form of hypophosphatasia is expressed in utero and can cause stillbirth. Profound skeletal hypomineralization results in caput membraneceum, and limbs that are shortened and deformed during gestation and at birth. Some affected neonates survive several days or weeks, but then suffer from increasing respiratory compromise because of rachitic disease of the chest and because of lungs that are hypoplastic. Infantile hypophosphatasia presents before the age of 6 months where the postnatal development often seems normal, until the onset of poor feeding and inadequate weight gain, and the clinical manifestations of rickets are recognized. The cranial sutures appear to be wide, but actually reflect hypomineralization of the skull and often there is a “functional” craniosynostosis. Childhood hypophosphatasia is especially variable in its clinical expression where premature loss of deciduous teeth results from aplasia, hypoplasia, or dysplasia of dental cementum." @default.
• W1640252537 created "2016-06-24" @default.
• W1640252537 creator A5036775753 @default.
• W1640252537 date "2008-01-01" @default.
• W1640252537 modified "2023-10-10" @default.
• W1640252537 title "Hypophosphatasia" @default.
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