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Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, [1] is a rare autosomal recessive [2] urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia.
Hyperinsulinism-hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder that results in the excess production of insulin and ammonia in mammals. [1] HI/HA is caused by increased Glutamate dehydrogenase 1 (GDH) activity due to the presence of overactivating point mutations in GDH.
Hyperammonemia, or high ammonia levels, is a metabolic disturbance characterised by an excess of ammonia in the blood. Severe hyperammonemia is a dangerous condition that may lead to brain injury and death. It may be primary or secondary. Ammonia is a substance that contains nitrogen. It is a product of the catabolism of protein.
Severe Transient Hyperammonemia causes neurological problems as ammonia levels in the brain are too high, which can cause infant hyptotonia as well as neonatal seizures. [5] Severe Transient Hyperammonemia can also cause respiratory distress syndrome. [5] Chest x-rays may resemble hyaline membrane disease. [5]
Affected infants have severe lactic acidosis, a build-up of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone , abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth.
Given a transformation between input and output values, described by a mathematical function, optimization deals with generating and selecting the best solution from some set of available alternatives, by systematically choosing input values from within an allowed set, computing the output of the function and recording the best output values found during the process.
The most effective "knowledge leaders" (managers and clinical leaders) use a broad range of management knowledge in their decision making, rather than just formal evidence. [25] Evidence-based guidelines may provide the basis for governmentality in health care, and consequently play a central role in the governance of contemporary health care ...
Chronic care management encompasses the oversight and education activities conducted by health care provider to help patients with long term illness and health conditions such as diabetes, hypertension, lupus, multiple sclerosis, and stopping of breathing during asleep learn to understand their condition and live successfully with it.