Last update 01 Nov 2024

Glycogen Storage Disease Type Ix

Last update 01 Nov 2024

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.Startup [+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

224

Literatures (Medical) associated with Glycogen Storage Disease Type Ix

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.

26 Jul 2024·Cureus

Glycogen Storage Disorder Type IXb: Exploring Clinical Patterns and Genetic Insights Into a Rare Phosphorylase Kinase B (PHKB)-Associated Case

Article

Author: Ramamoorthy, Sudhakar ; Venkata Renuka, Inuganti ; N, Srilaxmi ; S K Kanth, Bakkamanthala ; B, Vijayalakshmi

Glycogen storage disorders (GSDs) encompass a group of metabolic disorders resulting from deficiencies in enzymes involved in glycogen synthesis or breakdown. Among these, GSD type IX manifests due to a deficiency in phosphorylase kinase enzyme, leading to liver-specific, muscle-specific, or combined forms of the disorder. We present a case report of an exceedingly rare deletion-type mutation in the phosphorylase kinase B (PHKB) gene causing GSD type IXb, offering a comprehensive evaluation of clinical, laboratory, and molecular findings. A one-year and four-month-old male, born of third-degree consanguinity, presented with delayed motor milestones, hypotonicity, short stature, doll-like facies, and hepatosplenomegaly. Preliminary investigations revealed fasting hypoglycemia, ketonuria, elevated liver enzymes, and histological evidence of glycogen accumulation. Whole exome sequencing identified a homozygous deletion encompassing exons 2 to 10 of the PHKB gene, confirming the diagnosis of GSD IXb. GSD IXb due to PHKB mutations is rare, comprising only 10% of liver-specific GSD IX cases. Compared with similar cases reported in the literature, our analysis highlights the genetic heterogeneity within this subtype. Although clinical manifestations may overlap, specific genetic alterations vary, indicating that an individualized diagnostic approach is needed.

01 Jul 2024·Cureus

Glycogen Storage Disorder Type IXb: Exploring Clinical Patterns and Genetic Insights Into a Rare Phosphorylase Kinase B (PHKB)-Associated Case.

Article

Author: Ramamoorthy, Sudhakar ; Venkata Renuka, Inuganti ; N, Srilaxmi ; S K Kanth, Bakkamanthala ; B, Vijayalakshmi

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