hypophosphatasia


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hypophosphatasia

 [hi″po-fos″fah-ta´zhah]
an inborn error of metabolism marked by abnormally low serum alkaline phosphatase activity; it is manifested by rickets in infants and children and by osteomalacia in adults. It is most severe in babies under six months of age.

hy·po·phos·pha·ta·si·a

(hī'pō-fos'fă-tā'zē-ă),
An abnormally low content of alkaline phosphatase in the circulating blood.
Synonym(s): hypophosphatasemia

hypophosphatasia

/hy·po·phos·pha·ta·sia/ (-fos″fah-ta´zhah) an inborn error of metabolism with abnormally low serum alkaline phosphatase activity and phosphoethanolamine in the urine, most severe in babies before six months. Affected infants and children have rickets and adults have osteomalacia.

hypophosphatasia

[hī′pōfos′fətā′zhə]
Etymology: Gk, hypo + phosphoros, lightbearing
congenital absence of alkaline phosphatase, an enzyme essential to the calcification of bone tissue. Complications include vomiting, growth retardation, and often death in infancy. Children who survive have numerous skeletal abnormalities and suffer from dwarfism. There is no known treatment.

hy·po·phos·pha·ta·si·a

(hī'pō-fos'fă-tā'zē-ă)
An abnormally low content of alkaline phosphatase in the circulating blood.

hy·po·phos·pha·ta·si·a

(hī'pō-fos'fă-tā'zē-ă)
An abnormally low content of alkaline phosphatase in circulating blood.

hypophosphatasia (hī´pōfos´fə-tā´zhə),

n a familial disease in which the children may have very low serum alkaline phosphatase levels, total or partial aplasia of the cementum, and an abnormal periodontal ligament in the primary teeth; a decreased phosphatase level that has been linked to a premature loss of primary teeth in children. Examination reveals absence, hypoplasia, or dysplasia of cementum.
References in periodicals archive ?
HPP research company Soft Bones Inc Monday announced its fourth annual Maher Family Grant to Dr Kathryn Dahir to study adolescents and adults with hypophosphatasia (HPP) in collaboration between adult and pediatric endocrinology and the Pi Beta Phi Rehabilitation Institute.
Differential diagnosis of TD includes homozygous achondroplasia, achondrogenesis, captomelic dwarfism, chondrodysplasia punctata, severe hypophosphatasia and severe osteogenesis imperfecta.
68) The hypophosphatasia accounts for the skeletal abnormalities seen in these individuals.
e children with systemic diseases or conditions like Papillon lefevre syndrome, cyclic neutropenia, agranulocytosis, Downs syndrome, Hypophosphatasia and leucocyte adherence deficiency because the defect in neutrophil and immune cell function associated with these diseases may lead to in increased susceptibility to periodontitis.
Table 1 Classification of corneal degenerations Involutional Non-involutional Corneal arcus Band keratopathy Farinata Salzmann's nodular degeneration Furrow degeneration Spheroidal degeneration Crocodile Shagreen Terrien's marginal degeneration Table 2 Local and systemic causes of band keratopathy Local Systemic Chronic uveitis Hyperparathyroidism Intraocular silicone oil Renal failure Interstitial keratitis Excessive vitamin D intake Topical medications (phosphate containing) Sarcoidosis Juvenile dopathic arthritis Milk-alkali syndrome with uveitis Phthisis bulbi Hypophosphatasia
Children with severe hypophosphatasia, which affects just one in a million people, began being treated with the drug three years ago after it was developed by bone research scientists in the USA and Canada.
Systemic diseases associated with periodontitis with or without premature exfoliation of primary teeth may include Papillon-Lefevre syndrome, hypophosphatasia, leukaemias, Chediak-Higashi syndrome, Langerhan's cell histocytosis, neutropenia and leukocyte adhesion deficiency.
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization.
NEW YORK -- The investigational bone-targeting enzyme replacement therapy ENB-0040 was associated with significant bone mineralization and clinical improvements at 6 months in five infants with life-threatening hypophosphatasia who were given the compound in a phase II open-label trial.