Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

DiscussionExcretion values of amino acids not classically related to Hartnup disorder are frequently elevated in patients with Hartnup disorder, which may cause misdiagnosis as generalized aminoaciduria and preclusion from vitamin B3 treatment. Calculation of the HAA/OAA ratio improves diagnostic differentiation of Hartnup disorder from other aminoacidurias.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research