Assessment of Thyroid Function in Patients With Alkaptonuria.

ABSTRACT:

Importance

Alkaptonuria is an autosomal recessive disorder caused by pathogenic variants in the HGD gene. Deficiency of the HGD enzyme leads to tissue deposition of homogentisic acid (HGA), causing severe osteoarthropathies and cardiac valve degeneration. Although HGD is vital for the catabolism of tyrosine, which provides the basis for thyroid hormone synthesis, the prevalence of thyroid dysfunction in alkaptonuria is unknown.

Objective

To assess thyroid structure and function in patients with alkaptonuria.

Design, setting, and participants

A single-center cohort study was conducted in a tertiary referral center including patients with alkaptonuria followed up for a median of 93 (interquartile range, 48-150) months between February 1, 2000, and December 31, 2018. The

SUBMITTER: Avadhanula S 

PROVIDER: S-EPMC7090965 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature