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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 ...
Adenylosuccinate lyase mutants can have considerably reduced activity whether the mutation is in or away from the active site. Disease-causing ASL mutants R396C and R396H are at the entrance to the active site and have lower V max than the wild-type ASL, but the mutants K246E and L311V which are away from the active site also cause decreased V max.
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 . It processes excess nitrogen , generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys .
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.
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]
Endoscopic image of peptic stricture, or narrowing of the esophagus near the junction with the stomach: This is a complication of chronic gastroesophageal reflux disease and can be a cause of dysphagia or difficulty swallowing. The diagnosis of GERD is usually made when typical symptoms are present. [42]
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 ...
Autoimmune disorders are also a cause for small bacterial growth in the bowel and a deficiency of Vitamin B-12. These have also proved to be factors of acid secretion in the stomach. [ 7 ] Autoimmune conditions can often be managed with various treatments; however, little is known about how or if these treatments effect achlorhydria.