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Last update 08 May 2025

Glycogen Storage Disease Type Ix

Last update 08 May 2025

Basic Info

Synonyms

9ｶﾞﾀﾄｳｹﾞﾝﾁｮｿﾞｳｼｮｳｶﾞｲ, GSD IX, GSD due to phosphorylase kinase deficiency

+ [32]

Introduction

Glycogen storage disease usually inherited in an X-linked recessive pattern. It is characterized by a deficiency of hepatic phosphorylase kinase.

Drugs associated with Glycogen Storage Disease Type Ix

AAV9-LSP-hPHKG2

Target

PHKG2

Mechanism

PHKG2 modulators

Active Org.

Kriya Therapeutics, Inc.

[+1]

Originator Org.

Duke University [+1]

Active Indication

Glycogen Storage Disease Type Ix

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Glycogen Storage Disease Type Ix

NCT04454216

/ RecruitingNot ApplicableIIT

GSD VI and GSD IX Natural History

Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.

Start Date18 Sep 2020

Sponsor / Collaborator

Duke University

NCT02686710

/ TerminatedPhase 4IIT

Comparison of the Effects of TIVA vs VIMA on Content of GSK-3beta in Leucocytes in On-pump Patients: a Randomized Clinical Trial

Assessment of GSK-3beta contents in leukocytes in on-pump cardiosurgical patients receiving either volatile or intravenous anesthesia

Start Date01 Feb 2016

Sponsor / Collaborator-

NCT02635269

/ Unknown statusNot ApplicableIIT

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.

Start Date01 Jan 2016

Sponsor / Collaborator

Rigshospitalet

100 Clinical Results associated with Glycogen Storage Disease Type Ix

100 Translational Medicine associated with Glycogen Storage Disease Type Ix

0 Patents (Medical) associated with Glycogen Storage Disease Type Ix

228

Literatures (Medical) associated with Glycogen Storage Disease Type Ix

01 Oct 2025·Archivos Argentinos de Pediatria

Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report

Author: Seminara, Alejo ; Newkirk, Guillermo T ; Durand, Consuelo

Rhabdomyolysis is the clinical picture characterized by the destruction of skeletal muscle. It is associated with the consequent elevation of serum creatine kinase above five times its standard value or greater than 1,000 U/L. Its most frequent causes are acquired. However, less frequent causes, such as congenital metabolic diseases, should be considered when the rhabdomyolysis event recurs. We describe the case of a pediatric patient with recurrent rhabdomyolysis, which triggered by a type IX glycogenosis with a PHKA1 gene mutation. This pathogenic variant generates muscle phosphorylase kinase enzyme deficiency, hindering the use of glycogen as an energy source during prolonged fasting or metabolic demands. We consider it essential to increase knowledge about these entities in the face of recurrent rhabdomyolysis in the pediatric age for early detection and timely referral to a specialist.

01 Apr 2025·Molecular Metabolism

The neglected PCK1/glucagon (inter)action in nutrient homeostasis beyond gluconeogenesis: Disease pathogenesis and treatment

Review

Author: Westermeier, Francisco ; González-Chavarría, Iván ; Jara, Nery ; Holyoak, Todd ; Gatica, Rodrigo ; Bertinat, Romina

BACKGROUNDGlucagon plays a central role in hepatic adaptation during fasting, with the upregulation of hepatic phosphoenolpyruvate carboxykinase 1 (PCK1) traditionally associated with increased gluconeogenesis. However, recent experimental models and clinical studies have challenged this view, suggesting a more complex interplay between PCK1 and glucagon, which extends beyond gluconeogenesis and has broader implications for metabolic regulation in health and disease.SCOPE OF REVIEWThis review provides a comprehensive overview of the current evidence on the multifaceted roles of PCK1 in glucagon-dependent hepatic adaptation during fasting, which is crucial for maintaining systemic homeostasis not only of glucose, but also of lipids and amino acids. We explore the relationship between PCK1 deficiency and glucagon resistance in metabolic disorders, including inherited PCK1 deficiency and metabolic dysfunction-associated steatotic liver disease (MASLD), and compare findings from experimental animal models with whole-body or tissue-specific ablation of PCK1 or the glucagon receptor. We propose new research platforms to advance the therapeutic potential of targeting PCK1 in metabolic diseases.MAJOR CONCLUSIONSWe propose that hepatic PCK1 deficiency might be an acquired metabolic disorder linking alterations in lipid metabolism with impaired glucagon signaling. Our findings highlight interesting links between glycerol, PCK1 deficiency, elevated plasma alanine levels and glucagon resistance. We conclude that the roles of PCK1 and glucagon in metabolic regulation are more complex than previously assumed. In this (un)expected scenario, hepatic PCK1 deficiency and glucagon resistance appear to exert limited control over glycemia, but have broader metabolic effects related to lipid and amino acid dysregulation. Given the shift in glucagon research from receptor inhibition to activation, we propose that a similar paradigm shift is needed in the study of hepatic PCK1. Understanding PCK1 expression and activity in the glucagon-dependent hepatic adaptation to fasting might provide new perspectives and therapeutic opportunities for metabolic diseases.

01 Sep 2024·Clinical Genetics

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX

Article

Author: Lou, Jingan ; Fang, Youhong ; Chen, Jie ; Yu, Jindan ; Ren, Yanqi ; Chen, Lingli ; Ling, Xiuxin ; Lin, Haihua

AbstractGlycogen storage diseases (GSDs) are abnormally inherited glycogen metabolism mainly affecting the liver, muscles, and heart. Deficiency of proteins involved in glycogen metabolism caused by genetic mutations are responsible for different subtype of GSDs. However, there are still some challenges in diagnosing GSD. This study includes 39 suspected GSDs patients from unrelated families in China. Next‐generation sequencing (NGS) was used to investigate the reason for their diseases at the genetic level. Finally, all 39 patients were diagnosed with GSDs, including 20 GSD‐Ia, 4 GSD‐VI, and 15 GSD IX (12 GSD‐IXa patients and 3 GSD‐IXb patients). Thirty‐two mutations in G6PC1, PYGL, PHKA2, and PHKB genes were identified, with 14 of them being novel variants. The pathogenicity of novel variants was classified according to ACMG guildlines and predicted by in slico algorithms. Mutations p.L216L and p.R83H in G6PC1 gene may be the hot spot mutation in Chinese. Hearing impairment is a rare clinical feature of GSD Ia, which has also been observed in our cohort. The severity of GSD VI and IX was indicated by our patients. Close follow‐up should be applied to GSD VI and IX patients. Our findings provided evidence for building the phenotype–genotype of GSDs and expanded the mutation spectrum of related genes.

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Glycogen Storage Disease Type Ix

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