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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.
Currently, the only option for curing OTC deficiency is a liver transplant, which restores normal enzyme activity. [10] A 2005 review of 51 patients with OTC deficiency who underwent liver transplant estimated 5-year survival rates of greater than 90%. [10] Severe cases of OTC deficiency are typically evaluated for liver transplant by 6 months ...
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
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.
During metabolic crisis, moderate hyperammonemia, [7] hypoglycemia, and metabolic acidosis have been noted. [17] There is a broad spectrum of clinical manifestations ranging from cardiomyopathy, developmental delays, [4] leukodystrophy, necrotizing encephalopathy, respiratory failure, hypotonia, [6] cerebral palsy and failure to thrive. [17]
Adult patients often have serum and/or urine screen positive for the presence of myoglobin and serum creatine kinase and transaminase levels 20-400x higher than normal levels during an attack. [21] Signs of metabolic acidosis and significant hyperammonemia have been reported in infantile and neonatal cases. [21] [17]
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.
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.