Pathophysiology of long-term complications in classic galactosemia: What we do and do not know

Judith L Fridovich-Keil; Gerard T Berry

doi:10.1016/j.ymgme.2022.07.005

Pathophysiology of long-term complications in classic galactosemia: What we do and do not know

Mol Genet Metab. 2022 Sep-Oct;137(1-2):33-39. doi: 10.1016/j.ymgme.2022.07.005. Epub 2022 Jul 9.

Authors

Judith L Fridovich-Keil¹, Gerard T Berry²

Affiliations

¹ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: jfridov@emory.edu.
² Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address: gerard.berry@childrens.harvard.edu.

PMID: 35882174
DOI: 10.1016/j.ymgme.2022.07.005

Abstract

Despite many decades of research involving both human subjects and model systems, the underlying pathophysiology of long-term complications in classic galactosemia (CG) remains poorly understood. In this review, intended for those already familiar with galactosemia, we focus on the big questions relating to outcomes, mechanism, and markers, drawing on relevant literature where available, attempting to navigate inconsistencies where they appear, and acknowledging gaps in knowledge where they persist.

Keywords: Complications; GALT; Galactosemia; Markers; Mechanism; Pathophysiology.

Publication types

Review

MeSH terms

Galactosemias* / complications
Galactosemias* / genetics
Humans
Models, Biological
UTP-Hexose-1-Phosphate Uridylyltransferase

Substances

UTP-Hexose-1-Phosphate Uridylyltransferase