common Osteoporosis medications such as bisphosphonates may harm HPP patients. It must be also noticed that serum AP dramatically varies with age and sex. View Article PubMed Google Scholar Millan J: Mammalian alkaline phosphatases: from biology to applications in medicine and biotechnology. View Article PubMed Google Scholar Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussiere P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B: Identification of fifteen. However, the symptoms can be diverse including neurological and muscular symptoms, sometimes hindering fast and correct diagnosis. A lowering of alkaline phosphatase (AP) and / or bone-specific AP is the most important diagnostic indicator, which should be further addressed to rule out or confirm HPP.
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A history of fractures and bone pain usually exists as well. PubMed Google Scholar Antonarakis SE: Recommendations for a nomenclature system for human gene mutations. Some infants survive a few days but have respiratory complications due to hypoplastic lungs and rachitic deformities of the chest. View Article PubMed Google Scholar Ito M, Amizuka N, Ozawa H, Oda K: Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153- Asp substitution, a cause of perinatal hypophosphatasia. View Article PubMed Google Scholar Henthorn PS, Whyte MP: Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. J Craniofac Genet Dev Biol. This may be attributable both to the progressive improvement of affected patients from infancy to adulthood 13, 36, 51, 52 and to epigenetic factors involved in the variable expression of the disease. Skeletal deformities, such as dolichocephalic skull and enlarged joints, a delay in walking, short stature, and waddling gait accompany the childhood form. Trans Assoc Am Physicians. Depending on the age at diagnosis, six looking Backward clinical forms are currently recognized: perinatal (lethal infantile, childhood, adult, odontohypophosphatasia and a rare benign prenatal form characterized by in utero detection but much better prognosis than other prenatal forms (Table 1 ). The six clinical forms of hypophosphatasia. This form also has respiratory complications due to rachitic deformities of the chest.