Argininosuccinic Aciduria

Argininosuccinic Aciduria is a heritage disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when the proteins are broken down in the body, if the level becomes too much then it is poisonous. The nervous system is particularly susceptible to the effects of extra ammonia.

Argininosuccinic Aciduria usually becomes apparent in the first few days of life. Argininosuccinic Aciduria may be reluctant to eat or eat an infant energy (sluggish) with, and controlled bad breath rate or body temperature. With this disorder some children experience seizures or abnormal body activities, or go into coma. Complications from Argininosuccinic Aciduria may include delay in development and intellectual inefficiency. Progressive liver damage, skin lesion, and brittle hair can also be seen.

Occasionally, a person may be the heir apparent to the mild form of the disorder, in which blood pressure is stored in blood flow only during the period of illness or other stress.

Argininosuccinic Aciduria is a heritage disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when the proteins are broken down in the body, if the level becomes too much then it is poisonous. The nervous system is particularly susceptible to the effects of extra ammonia. Argininosuccinic Aciduria usually becomes apparent in the first few days of life. Argininosuccinic Aciduria may be reluctant to eat or eat an infant energy (sluggish) with, and controlled bad breath rate or body temperature. With this disorder some children experience seizures or abnormal body activities, or go into coma. Complications from Argininosuccinic Aciduria may include development delays, intellectual inefficiency, progressive liver damage, skin lesion, and brittle hair. This condition is due to mutation in the ASL gene and it is inherited in an autosomal recessive pattern. Long-term management includes dietary restriction of protein and supplemented with arginine. Closing oral protein intake, supplementing oral intake with intravenous lipids and / or glucose, and acute crisis can be treated by using intravenous arginine and nitrogen scavenging therapy. If ammonia levels are not normal, then hemodialysis may be necessary.

Frequency

Argininosuccinic Aciduria occurs in about 1 in 70,000 newborns.

Causes

Mutation in ASL gene causes Argininosuccinic Aciduria.

Argininosuccinic Aciduria is related to a class of genetic diseases called urea cycle disorder. The urea cycle is a sequence of reactions occurring in the liver cells. It processes extra nitrogen, when the protein is used by the body, making a compound known as urea released from the kidney.

In Argininosuccinic Aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. Urea cycles can not progress normally, and nitrogen deposits in the form of ammonia in the blood pressure.

Ammonia is especially harmful to the nervous system, so Argininosuccinic Aciduria causes neurological problems as well as the last loss to the liver.

Symptoms

This table lists the symptoms that people with this disease can have. For most diseases, the symptoms will vary from person to person. People with the same illness can not have all the symptoms listed. This information comes from a database called Human Phenotype Ontology (HPO). HPO collects information on the symptoms described in medical resources.

Diagnosis

Diagnosis for genetic or rare disease can be challenging often. Healthcare professionals usually look at a person’s medical history, symptoms, physical examination, and laboratory test results to diagnose. The following resources provide information related to diagnosis and testing for this condition. If you have any questions about getting a diagnosis, then you should contact the healthcare professional.

Testing Resources

•  The Genetic Testing Registry (GTR) provides information about genetic tests for this condition. The target audience for GTR is healthcare providers and researchers. Patients and consumers with specific questions about genetic testing should contact a health care provider or geneticist.

Newborn Screening

•  An act sheet for this condition is available which describes short-term tasks when a baby has a positive newborn screening result. Act sheets were developed by experts in collaboration with the American College of Medical Genetics.
•  An algorithm flowchart is available for this situation to determine the final diagnosis of a baby with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
•  The Newborn Screening Coding and Terminology Guide provides information about the standard codes used for neonatal screening tests. The use of these standards helps in comparing data in various laboratories. This resource was created by the National Library of Medicine.
•  Baby’s first test is the country’s newborn screening education center for families and providers. This site provides information and resources about screening at local, state and national levels and works as a clearinghouse for newborn screening information.
•  The National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the field of neonatal screening and genetics for the benefit of healthcare professionals, public health community, consumers and government officials.

Treatment

The resources given below provide information about treatment options for this condition. If you have any questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

•  Nord physician guide for Argininosuccinic aciduria was developed as a free service of the National Association of Rare Diseases (NORD) and its Medical Consultants. The guide provides a resource for practitioners about specific rare disorders to facilitate the diagnosis and treatment of their patients with this condition.
•  Orphanet Emergency Guidelines is an article that is expert-writer and peer-reviewed, aimed at guiding health care professionals in emergency situations related to this situation.

FDA-Approved Treatment

The drugs listed below have been approved by the Food and Drug Administration (FDA) as orphans for the treatment of this condition. Learn more orphaned products.
•  Glycerol phenylbutyrate ( Ravicti) – Manufactured by Horizon Pharma, Inc.
FDA-approved signals: Use Urea Cycle Disorders (UCD) as a nitrogen-binding assisted treaty for older management of at least 2 months of age and child patients with dietary restrictions and / or amino acids supplements Can not be managed alone by. RAVICTI diet should be used with protein restriction and, in some cases, dietary supplements (for example, essential amino acids, arginine, citrulline, protein-free calorie supplements).