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.
References in periodicals archive ?
Hypophosphatasia is a genetic disorder which is primarily inherited as an autosomal recessive trait although autosomal dominant inheritance has also been described in the childhood (> 6 months) and adult forms.
Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.
Conclusions: The perinatal form of hypophosphatasia is considered to be lethal.
Hypophosphatasia, a rare, genetic bone disease, is characterized by a lack or reduced amount of alkaline phosphatase, a particular tissue enzyme that is thought to play a role in the production of bone.
Maggie said: "Specialists say Declan's head still looks like hypophosphatasia - but the rest of his body doesn't.
We look forward to our partnership with Laureate and advancing our hypophosphatasia program into the clinic," said Robert Heft, President and CEO of Enobia.
Since the GPI anchor is a protein related to several diseases including BSE and hypophosphatasia, this achievement is expected to elucidate the mechanisms of developing those diseases, promoting the development of various drugs including antfungal, antimalarial and antiprotozoal agents.
Variants of osteomalacia include vitamin D deficiency, renal tubular acidosis, Fanconi syndrome, vitamin D-dependent rickets types I and II, hypophosphatemic vitamin D-resistant rickets, oncogenic osteomalacia, and hypophosphatasia.
Asfotase Alfa: The natural history study in infants with hypophosphatasia (HPP), an ultra-rare, inherited and life-threatening metabolic disease, is on-going.
Food and Drug Administration (FDA) for asfotase alfa, an investigational, first-in-class enzyme replacement therapy for the treatment of hypophosphatasia (HPP).
In children, hypercalcemia attributable to hyperparathyroidism must be differentiated from nonparathyroid causes such as malignancy, calcium or vitamin D intoxication, hypophosphatasia, and Williams syndrome.
Asfotase Alfa: During Q2, Alexion initiated its planned natural history study in infants with hypophosphatasia (HPP), an ultra-rare, inherited, and life-threatening metabolic disease.