Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

ABSTRACT:

Background

Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. Considering the paucity of literature available, herein we provide a narrative review of these latter forms of GSDs.

Main body

Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distinguish the various forms, whose presentation can be similar. Compared to GSD type I and III, which are characterized by a more severe impact on metabolic and glycemic homeostasis, GSD type 0, VI, IX and XI are usually known to be respo

SUBMITTER: Massese M 

PROVIDER: S-EPMC9208159 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature