Ornithine transcarbamylase deficiency is a genetic disorder that affects the liver’s ability to convert ammonia to urea, leading to hyperammonemia and various complications. Treatment includes medication and a low protein diet, but infants often suffer permanent brain damage, coma, and death. Diagnosis is made through laboratory analysis, and immediate treatment is necessary for severe cases. Long-term management includes a strict diet and frequent check-ups.
Ornithine transcarbamylase deficiency is a genetic disorder in which abnormally low levels of an important enzyme affect the liver’s ability to convert ammonia to urea. When ammonia builds up in the liver and bloodstream, it leads to a serious medical condition called hyperammonemia. A person suffering from ornithine transcarbamylase deficiency can experience a variety of developmental, neurological, and pulmonary complications. Doctors usually treat the condition in adults by giving medications to reduce the amount of ammonia in the body and by suggesting a low protein diet. When it appears in infancy, however, doctors can do little to prevent permanent brain damage, coma, and death.
Ammonia is a byproduct of normal metabolic processes that convert food into usable energy for cells. In healthy livers, ornithine transcarbamylase enzymes help break down toxic ammonia compounds into a less harmful form called urea, which is excreted from the body in the urine. Enzyme deficiencies are the result of genetic mutations on the X chromosome, although not all children born with the condition experience problems. It is common for the condition to go unnoticed until it becomes apparent in adolescence or adulthood.
An adult with mild ornithine transcarbamylase deficiency may not experience any physical symptoms of hyperammonaemia, although an individual with severely low levels of the enzyme may suffer from a variety of health problems. Ornithine transcarbamylase deficiency can cause seizures, coordination problems, disorientation, and rapid, shallow breathing. When hyperammonemia worsens, it can lead to severe mood swings, anorexia and brain damage. Some people experience mental retardation or go into a coma if the hyperammonaemia is not immediately identified and treated.
Infants who show immediate signs of ornithine transcarbamylase deficiency usually do not have a good prognosis. The condition causes lethargy, vomiting, body temperature fluctuation, and malnutrition in infants. Newborns can suffer liver damage, encephalitis, coma and death within the first few months. The children who survive often suffer from permanent mental and physical disabilities.
Doctors usually diagnose ornithine transcarbamylase deficiency by looking for signs of hyperammonemia and taking blood and urine samples for laboratory analysis. Immediate treatment in the form of hemodialysis is usually needed in infants and adults who have severe symptoms. Hemodialysis involves inserting an intravenous catheter into a patient’s arm to extract and filter the contaminated blood in his system. Sodium benzoate injections are given to adults to help prevent new ammonia compounds from forming.
After initial treatment, doctors can discuss long-term management plans with their patients to make sure enzyme deficiencies don’t cause lasting problems. Patients are often placed on strict diets that are low in protein and high in carbohydrates and fat. Many people turn to licensed nutritionists to help them plan their diet routines. With careful monitoring by nutritionists and frequent check-ups with doctors, most people diagnosed with ornithine transcarbamylase deficiency are able to lead normal, healthy lives.
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