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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 ]
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.
eMedicine Specialties > Metabolic Diseases > Hyperammonemia Author: Karl S Roth, MD. Updated: May 31, 2007; Date: 5 May 2009: Source: All used images are in public domain. Author: Mikael Häggström. When using this image in external works, it may be cited as: Häggström, Mikael (2014). "Medical gallery of Mikael Häggström 2014".
Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance.. CPS I deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
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Measurement of urine amino acid concentrations is sometimes necessary, particularly in neonatal onset cases to identify the presence or absence of homocitrulline for ruling out ornithine translocase deficiency (hyperornithinemia, hyperammonemia, homocitrullinuria syndrome, HHH syndrome). [3]