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Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
New Data Evaluating Asfotase Alfa in Infants and Young Children with Hypophosphatasia (HPP) Presented at Paediatric Endocrinology Meeting - Early and Continued Improvement in Skeletal ...
FDA Grants Breakthrough Therapy Designation to Asfotase Alfa for Perinatal-, Infantile- and Juvenile-Onset Hypophosphatasia (HPP) LAUSANNE, Switzerland--(BUSINESS WIRE)-- Alexion Pharma ...
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. [1] Symptoms may include weakness, trouble breathing, and loss of appetite. [1]
Hypophosphatasia is caused by a genetic defect of tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme that plays a role in bone mineralization. Asfotase alfa is a recombinant glycoprotein that contains the catalytic domain (the active site) of TNSALP. It is thus a form of enzyme replacement therapy. [5] [12]
osteomalacia (adults), rickets (children), fractures, enthesopathy, spinal stenosis, abnormal gait, short stature, tinnitus, hearing loss, dental complications, in rare exceptions Chiari malformation can occur. Causes: A genetic mutation of the PHEX gene results in elevated FGF23 hormone. Medication: phosphate, vitamin-D or burosumab
She is a clinician scientist at the Children's Hospital Research Institute of Manitoba and holds the title of Distinguished Professor at the University of Manitoba. [ 1 ] Rockman-Greenberg is the leading Canadian researcher in the treatment of hypophosphatasia .
Mutations in the ALPL gene lead to varying low activity of the enzyme tissue-nonspecific alkaline phosphatase (TNSALP or TNAP) resulting in hypophosphatasia (HPP). [21] There are different clinical forms of HPP which can be inherited by an autosomal recessive trait or autosomal dominant trait, [18] the former causing more severe forms of the ...
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