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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 .
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]
ADHR affects men and women equally; symptoms may become apparent at any point from childhood through early adulthood. Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D. [1] Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct. [1]
Symptoms of hypernatremia may vary depending on type and how quickly the electrolyte disturbance developed. [27] Common symptoms are dehydration, nausea, vomiting, fatigue, weakness, increased thirst, and excess urination. Patients may be on medications that caused the imbalance such as diuretics or nonsteroidal anti-inflammatory drugs. [27]
Carefully evaluate serum phosphate levels in the first year of life, because the concentration reference range for infants (5.0–7.5 mg/dL) is high compared with that for adults (2.7–4.5 mg/dL). [citation needed] Serum parathyroid hormone levels are within the reference range or slightly elevated.
Adult patients may present with worsening musculoskeletal symptoms, muscle weakness, [1] myalgia, bone pain and fatigue which are followed by recurrent bone fractures. Children present with difficulty in walking , stunted growth and deformities of the skeleton (features of rickets ). [ 2 ]
While cardiomyopathy can be life-threatening, it is commonly resolved or substantially improved in Barth Syndrome patients after puberty. [ 10 ] Neutropenia , a granulocyte disorder that results in a low production of neutrophils, the body's primary defenders against bacterial infections, is another severe manifestation of Barth Syndrome.
Metabolic myopathies have varying levels of symptoms, being most severe when developed during infancy. Those who do not develop a form of a metabolic myopathy until they are in their young adult or adult life tend to have more treatable symptoms that can be helped with a change in diet and exercise. [19]