Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.

ABSTRACT:

Background

Alkaptonuria (AKU) is a rare inherited disorder of the tyrosine metabolic pathway. Our group is evaluating the use of the homogentisic acid-lowering agent nitisinone in patients with AKU. A major biochemical consequence of this treatment is hypertyrosinaemia. Herein we report the concentration of 20 serum amino acids over a 36-month period pre- and post-treatment with nitisinone.

Methods

Fasting serum samples were collected at baseline (pre-nitisinone), 3 (2 mg nitisinone every other day), 6, 12, 24 and 36 (2 mg nitisinone daily) months. Amino acids were measured using the Biochrom 30 high-performance liquid chromatography cation exchange system with ninhydrin detection.

Results

Fifty patients [21 female, mean age (±standard deviation) 54.1 (15.6) years (ra

SUBMITTER: Davison AS 

PROVIDER: S-EPMC6122054 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature