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Argininosuccinic aciduria



Argininosuccinic aciduria 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.


Argininosuccinic aciduria 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.


Argininosuccinic aciduria Prevalence


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


Argininosuccinic aciduria 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.


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