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Frequency. 2% (people in hospital) [1] 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] Complications may include seizures, coma, rhabdomyolysis, or softening of the bones.
Osteomalacia is a disease characterized by the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium. The impairment of bone metabolism causes inadequate bone mineralization. Osteomalacia in children is known as rickets ...
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]
PubMed search. [3] [4] Wikidata. View/Edit Human. View/Edit Mouse. Parathyroid hormone (PTH), also called parathormone or parathyrin, is a peptide hormone secreted by the parathyroid glands that regulates the serum calcium concentration through its effects on bone, kidney, and intestine. [5] PTH influences bone remodeling, which is an ongoing ...
Phosphate diabetes is a rare, congenital, hereditary disorder associated with inadequate tubular reabsorption that affects the way the body processes and absorbs phosphate. [ 1] Also named as X-linked dominant hypophosphatemic rickets ( XLH ), [ 2] this disease is caused by a mutation in the X-linked PHEX (phosphate regulating endopeptidase X ...
Hyperphosphatemia. Hyperphosphatemia is an electrolyte disorder in which there is an elevated level of phosphate in the blood. [1] Most people have no symptoms while others develop calcium deposits in the soft tissue. [1] The disorder is often accompanied by low calcium blood levels, which can result in muscle spasms.
It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. [1] Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells.
phosphate, vitamin-D or burosumab. X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness).
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