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The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets, and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.
Metabolic bone disease is an abnormality of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by deficiencies of minerals such as calcium, phosphorus, magnesium or vitamin D leading to dramatic clinical disorders that are commonly reversible once the underlying defect has been treated.
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]
Rodda's research focuses on genetic disorders of calcium and vitamin D metabolism, metabolic bone disease, and vitamin D deficiency during pregnancy, infancy, and childhood. [1] She has published extensively, with over 100 publications in peer-reviewed journals, including articles in Science and The Lancet. [1]
Also in XLH, where PHEX enzymatic activity is absent or reduced, osteopontin [31] —a mineralization-inhibiting secreted substrate protein found in the extracellular matrix of bone [32] —accumulates in bone (and teeth) to contribute to the osteomalacia (and odontomalacia) as shown in the mouse homolog (Hyp) of XLH and in XLH patients. [33 ...
Rickets, scientific nomenclature: rachitis (from Greek ῥαχίτης rhakhítēs, [6] meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and may have either dietary deficiency or genetic causes. [2] Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping.
Bone disease refers to the medical conditions which affect the bone. [1] ... Metabolic bone disease; Multiple myeloma [14] N. Nail–patella syndrome [15] O.
It provides extensive evaluation and treatment programs for children and adults with various metabolic bone diseases including osteoporosis, osteomalacia, stress fractures in young athletic women and men, and minimum trauma and nontraumatic fractures in infants, children and adults with hypermobility syndromes, Osteogenesis imperfecta, and ...