Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

ABSTRACT:

Introduction

Liver Glycogen Storage Disease Type IX (GSD IX) is one of the most common forms of GSD. It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - α, β, γ, and δ - each with tissue specific isoforms encoded by different genes. Until the recent availability of gene panels and exome sequencing, the diagnosis of liver GSD IX did not allow for differentiation of these subtypes. This study presents the first comprehensive literature review for liver GSD IX subtypes - GSD IX α2, β, and γ2. We aim to better characterize the natural history of liver GSD IX and further investigate if there are subtype-specific differences in clinical presentation.

Methods

A comprehensive literature review was perfor

SUBMITTER: Fernandes SA 

PROVIDER: S-EPMC7953588 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature