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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.
In THAN, symptoms of hyperammonemia are observed within 24 hours of birth, and the causation of hyperammonemia must exclude urea cycle disorders. If the amount of ammonia entering the brain is increased, neurological disorders such as urea cycle enzyme deficiencies, Reye syndrome , seizures, and encephalopathies may occur. [ 3 ]
Citrin deficiency has four primary phenotypes that are age dependent. These include neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) that affects infants, the adaptation or silent period, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adolescent and adult citrin deficiency (AACD) (formerly termed CTLN2), which represents the most severe form of ...
Integrated Management of Childhood Illness (IMCI) is a systematic approach to children's health which focuses on the whole child. [citation needed] This means focusing not only on curative care but also on prevention of disease. The approach was developed by United Nations Children's Fund and the World Health Organization in 1995. [1]
These patients are under the risk of severe hyperammonemia during infections that can lead to comatose states. [13] Liver transplant is gaining a role in the management of these patients, with small series showing improved quality of life. [citation needed]
Bacterial infections may present as fetal distress at birth (including signs of tachycardia, temperature instability or difficulty breathing), neonatal sepsis, or neonatal meningitis. Infections that develop during NICU admissions are more commonly coagulase-negative staphylococci, especially in infants with indwelling catheters.
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Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.