Argininosuccinic acidemia (ASA) are a disorder of the urea cycle.
Aciduria of Argininosuccinic usually become clearly in the firstly little time of living. An infant with argininosuccinic aciduria may be lacking in energy or unwilling to eat, and have poorly controlled breathing rate or body temperature. In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Mutations in the argininosuccinic acidemia gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions in the cells of the liver. In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing.
Aciduria of Argininosuccinic belong to a class of genetic sicknesses called the disorder of the urea cycle. The urea cycle is a consecution of responses which prevented in liver warrants. Argininosuccinic acidemia causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
Some babies with this disorder experience seizures or uncommon body movements, or go in a coma. Complications of argininosuccinic aciduria can include development and spirit slowing down retards. Progressive liver damage, skin lesions, and brittle hair may also be seen. Onset is usually at birth, but symptoms may not be noticeable for days or weeks. If left untreated, brain damage, coma, and death will occur. Many symptoms of argininosuccinic acidemia can be prevented by immediate treatment and lifelong management. People with ASA typically receive follow-up care by a team of professionals that is experienced in treating people with metabolic disorders. Patients who survive the newborn period may have a neurologic impairment. These neonatal onset patients have recurrent episodes of hyperammonemia associated with viral infections or increased dietary protein intake.
Argininosuccinic acidemia can be discovered by new-born research. A recognizable pattern of raised chemical products alarms the laboratory that a baby can be influenced. Confirmation of newborn screening results is required to make a firm diagnosis. Acute hyperammonemia may necessitate hemodialysis, which is more effective for lowering ammonia than peritoneal dialysis or arteriovenous hemofiltration. Sodium benzoate is given to conjugate Glycine, a major amino acid that contributes ammonia to the urea cycle, forming hippurate, which is subsequently excreted in the urine. Immediate treatment and lifelong management (following a strict diet and using appropriate supplements) may prevent many of these complications. Patients with either defect having onset in the newborn period face a poor outcome and significant risk of neurological damage or demise. In some affected individuals dialysis may be necessary.
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