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Aminoaciduria
- ... and symptoms of the condition. Congenital lysinuria Hyperdibasic aminoaciduria LPI Genetic Testing Registry: Lysinuric protein intolerance Lysinuric ... on PubMed Camargo SM, Bockenhauer D, Kleta R. Aminoacidurias: Clinical and molecular aspects. Kidney Int. 2008 Apr; ...
- ... levels of various amino acids in their urine (aminoaciduria). For most affected individuals, this is the only ... away once the trigger is remedied, although the aminoaciduria remains. In affected individuals, signs and symptoms most ...
- ... for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. ... of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is ...