hypophosphatasia


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hypophosphatasia

[‚hī·pō‚fas·fə′tā·zhə]
(medicine)
Alkaline phosphatase deficiency.
A hereditary metabolic disorder characterized by subnormal amounts of alkaline phosphatase in the tissues.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Hypophosphatasia. Best Prac Res Clin Rheumatol 2008;22:113-27.
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization.
An early asfotase alfa study in perinatal and infantile hypophosphatasia found that only one patient had HPP-related loss of a tooth after initiation of therapy [10].
For this reason, the disease has been divided into the following clinical sub-groups according to age at presentation: perinatal lethal hypophosphatasia (PLH), prenatal benign hypophosphatasia (PBH), infantile hypophosphatasia, childhood hypophosphatasia, adulthood hypophosphatasia, and odontohypophosphatasia (odonto HPP).
In the presence of bowed limbs, the prenatal differential diagnosis of CD must consider Cummings syndrome, osteogenesis imperfecta type 2, hypophosphatasia, and thanatophoric dysplasia.
Can occur in children and adolescents which include Papillon-Lefevre syndrome, cyclic neutropenia, agranulocytosis, Down syndrome, hypophosphatasia and leucocyte adhesion deficiency.
Although this anomaly usually affects dental tissues, case reports have documented the presence of regional odontodysplasia with epidermal nevus syndrome [2, 3], hypoplasia of the affected side of the face [4], hypophosphatasia [5], hydrocephalus and mental retardation [6], and ipsilateral vascular nevi [4, 7].
Autologous bone marrow transplantation has also been used in other pediatric skeletal diseases, such as osteopetrosis and infantile hypophosphatasia, with promising results [92, 93].
This indicates a risk of hypophosphatasia and neurological disorders, including epilepsy and disruption of myelin synthesis [235].
Other factors are previous damages to joints such as osteoarthritis, end-stage kidney disease, hyperparathyroidism, hemochromatosis, hypophosphatasia, hypomagnesemia, aging, and medications including diuretics.