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Abnormal urine amino acid level
- ... a condition characterized by an increase in the levels of phosphate in the blood ... block (amino acid) histidine with the amino acid arginine at position ...
- ... deficiency. Characteristic features of this condition include the abnormal ... amino acids in glutathione synthetase. Other mutations disrupt how genetic ...
- ... are involved in several other conditions associated with abnormal calcium ... urine (hypocalciuria), but affected individuals typically have no symptoms ...
- ... gene. Other mutations change single protein building blocks (amino acids) ... (salt wasting). The abnormal salt loss disrupts the normal balance of ions ...
- ... acids) in the NKCC2 protein. Other mutations delete amino acids from the ... wasting). The abnormal salt loss disrupts the normal balance of sodium, ...
- ... also involved in a different condition related to abnormal calcium ... (hypocalciuria). Because Gα11 signaling to block parathyroid hormone ...
- ... ions. Other mutations in the KCNJ1 gene delete amino acids from the protein ... wasting). The abnormal salt loss disrupts the normal balance of sodium, ...
- ... in abnormally high amounts of phosphate in the urine and low levels of phosphate in the blood. This further impairs ...
- ... People with this condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and learning problems. Most of the mutations that cause homocystinuria change single amino acids in methylenetetrahydrofolate reductase. These changes impair the function ...
- ... acetylglutamate synthase deficiency change single protein building blocks (amino acids) in the N-acetylglutamate synthase enzyme. It is thought that the abnormal enzyme cannot function properly. Other mutations result in ...
