Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

ABSTRACT:

Introduction

Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of this association remains unclear.

Methods

In this study, biotinidase activity was measured in plasma samples from 45 individuals with hepatic GSDs; GSDI (a, b; n = 25) and GSD III (a, b; n = 20), complemented by a chart review to associate biotinidase activity levels with clinical laboratory and imaging findings known to be implicated in these GSDs.

Results

Our findings showed variation in biotinidase activity levels among subjects with GSD I and III; biotinidase activity correlated positively with hypertriglyceridemia

SUBMITTER: El-Gharbawy A 

PROVIDER: S-EPMC9248216 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature