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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.
Rare (1 in 100,000); [3] more common in some populations [4] Hypophosphatasia (/ ˌhaɪpoʊˈfɒsfeɪtˌeɪʒə /; 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]
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). It is associated with a mutation in the PHEX gene sequence ...
Oncogenic osteomalacia, also known as tumor-induced osteomalacia or oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. It may be caused by a phosphaturic mesenchymal tumor. Symptoms typically include crushing fatigue, severe muscle weakness and ...
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of ...
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 ...
Especially when accompanied by shortness of breath, these symptoms can indicate cardiac amyloidosis, Zoghbi says. “It’s a problem of protein misfolding,” he explains. “The protein, which ...
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.
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