Argininosuccinic aciduria

Below you will find more information about Argininosuccinic aciduria from Medigest. If you believe that you are suffering from any of the symptoms of Argininosuccinic aciduria it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Argininosuccinic aciduria and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Argininosuccinic aciduria comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Argininosuccinic aciduria, also referred to as argininosuccinic academia, an inborn condition that results to ammonia being accumulated in the urine and the blood. In the earlier days of life it becomes evident, take note that ammonia is toxic particularly in the nervous system. A lack of argininosuccinate lyase enzyme, which is required to get rid of nitrogen from the body, causes ammonia to build up in the blood and urine. A baby infected with argininosuccinic aciduria can appear exhausted and be reluctant to eat, with poorly-controlled breathing rate or body temperature, occurrence of seizures or abnormal body movements, or worse might result to coma.

Prevalence

Argininosuccinic aciduria happens in around 1 in 70,000 live births.

Symptoms and Signs

Elevated blood ammonia level Nausea/vomiting/queasiness Seizures or fits Unusual hair duct Rejection to eat Progressive exhaustion Liver is enlarged Liver fibrosis - unusual mass that is seen in the liver. delicate hair hair structure lumps Problem in eating Lowered body temperature or Hypothermia Respiratory alkalosis - caused by an increase gas exchange in the lungs related with severe anxiety or aspirin intoxication or metabolic acidosis.

Complications

Delayed development mentally Damage in the liver is progressive Cuts/Lacerations in the skin Hair is brittle Coma - deep state of sleep If untreated results to developmental disability If untreated results to death If untreated results to cerebral edema To prevent several of this complications an immediate treatment and lifelong management together with strict diet with appropriate supplements is needed.

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