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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]
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 ]
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
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]
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.
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).