Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria.

ABSTRACT:

Background

Although changes in the tyrosine pathway during nitisinone therapy are known, a complete characterization of the induced tyrosinaemia is lacking to improve disease management.

Patients and methods

Our research aims were addressed by 24-h blood sampling. 40 patients with alkaptonuria (AKU), treated with 0, 1, 2, 4 and 8 mg nitisinone daily (n = 8), were studied over four weeks. Serum homogentisic acid (sHGA), tyrosine (sTYR), phenylalanine (sPHE), hydroxyphenylpyruvate (sHPPA), hydroxyphenyllactate (sHPLA) and nitisinone (sNIT) were measured at baseline and after four weeks.

Results

sNIT showed a clear dose-proportional response. sTYR increased markedly but with less clear-cut dose responses after nitisinone. Fasting and average 24-h (C_av)

SUBMITTER: Ranganath LR 

PROVIDER: S-EPMC8856922 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature