Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.

ABSTRACT: Classic galactosemia (CG) and clinical variant galactosemia (CVG) are allelic inborn errors of metabolism that result from profound deficiency, and near-profound deficiency, respectively, of galactose-1-P uridylyltransferase (GALT). Despite early detection and lifelong dietary restriction of galactose, which is the current standard of care, most patients with CG/CVG grow to experience a range of long-term developmental and other complications. One of the less well-understood complications of CG/CVG is decreased hand grip strength, as reported by Potter et al. (2013). Here, we confirm this phenotype in an independent cohort of 36 cases (4-18 years) and 19 controls (4-17 years), and further demonstrate that the grip strength deficit observed in cases may be secondary to growth delay. Specifi

SUBMITTER: Druss JJ 

PROVIDER: S-EPMC10842421 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature