Diurnal variability of glucose tetrasaccharide (Glc₄) excretion in patients with glycogen storage disease type III.

ABSTRACT:

Aim

The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc₄), is a glycogen limit dextrin that is elevated in patients with glycogen storage disease (GSD) type III. We evaluated the potential of uncooked cornstarch therapy to interfere with Glc₄ monitoring, by measuring the diurnal variability of Glc₄ excretion in patients with GSD III.

Methods

Voids were collected at home over 24 hours, stored at 4°C and frozen within 48 hours. Glc₄ was analyzed using liquid chromatography-tandem mass spectrometry and normalized to creatinine.

Results

Subjects with GSD III (median age: 13.5 years, range: 3.7-62; n = 18) completed one or more 24-hour urine collection, and 28/36 collections were accepted for analysis. Glc₄

SUBMITTER: Young SP 

PROVIDER: S-EPMC7932871 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature