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

ABSTRACT:

Introduction

Hartnup disorder is caused by a deficiency of the sodium dependent B⁰ AT1 neutral amino acid transporter in the proximal kidney tubules and jejunum. Biochemically, Hartnup disorder is diagnosed via amino acid excretion patterns. However, these patterns can closely resemble amino acid excretion patterns of generalized aminoaciduria, which may induce a risk for misdiagnosis and preclusion from treatment. Here we explore whether calculating a diagnostic ratio could facilitate correct discrimination of Hartnup disorder from other aminoacidurias.

Methods

27 amino acid excretion patterns from 11 patients with genetically confirmed Hartnup disorder were compared to 68 samples of 16 patients with other aminoacidurias. Amino acid fold changes were calculated b

SUBMITTER: Haijes HA 

PROVIDER: S-EPMC6938934 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature