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Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and autistic features. Two common theories were proposed to account for these effects, the first is that they result from decreased concentrations of purine nucleotides needed for purine ...
Mutated adenylosuccinate lyase (ASL) causes clinical disease in patients that is referred to as adenylosuccinate lyase deficiency. This condition is rare, and it presents with varying degrees of psychomotor retardation , autism , muscle wasting , and epilepsy .
Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system.
Sometimes the lesions are found when endoscopy is done for other hernia symptoms than anemia such as heartburn, regurgitation, swallowing difficulty, pain or distention. [9] When a person with iron deficiency anemia is found to have a large hernia and Cameron lesions on endoscopy, this usually explains the blood loss.
Esophagitis is an inflammation of the esophagus, most commonly caused by gastroesophageal reflux disease . [6] It is defined by the sensation of "heartburn" or a burning sensation in the chest as a result of inappropriate relaxation of the lower esophageal sphincter at the site where the esophagus connects to the stomach. It is often treated ...
Gastric antral vascular ectasia (GAVE) is an uncommon cause of chronic gastrointestinal bleeding or iron deficiency anemia. [1] [2] The condition is associated with dilated small blood vessels in the gastric antrum, which is a distal part of the stomach. [1] The dilated vessels result in intestinal bleeding. [3]
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