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Narrative review of glycogen storage disorder type <scp>III</scp> with a focus on neuromuscular, cardiac and therapeutic aspects
- Source :
- Journal of Inherited Metabolic Disease, Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.521-533. ⟨10.1002/jimd.12355⟩, Journal of Inherited Metabolic Disease, 2021, 44 (3), pp.521-533. ⟨10.1002/jimd.12355⟩
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- International audience; Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of glycogen debranching enzyme activity, causing inability to fully mobilize glycogen stores and its consequent accumulation in various tissues, notably liver, cardiac and skeletal muscle. In the pediatric population, it classically presents as hepatomegaly with or without ketotic hypoglycemia and failure to thrive. In the adult population, it should also be considered in the differential diagnosis of left ventricular hypertrophy or hypertrophic cardiomyopathy, myopathy, exercise intolerance, as well as liver cirrhosis or fibrosis with subsequent liver failure. In this review article, we first present an overview of the biochemical and clinical aspects of GSDIII. We then focus on the recent findings regarding cardiac and neuromuscular impairment associated with the disease. We review new insights into the pathophysiology and clinical picture of this disorder, including symptomatology, imaging and electrophysiology. Finally, we discuss current and upcoming treatment strategies such as gene therapy aimed at the replacement of the malfunctioning enzyme to provide a stable and long-term therapeutic option for this debilitating disease.
- Subjects :
- Adult
[SDV]Life Sciences [q-bio]
Cardiomyopathy
Exercise intolerance
Hypoglycemia
Bioinformatics
Glycogen debranching enzyme activity
Glycogen Storage Disease Type III
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Muscular Diseases
glycogen storage disorder
Genetics
medicine
Animals
Humans
Child
Muscle, Skeletal
Myopathy
Genetics (clinical)
030304 developmental biology
0303 health sciences
Glycogen
business.industry
Genetic Therapy
metabolic disease
medicine.disease
gene therapy
3. Good health
Review article
Disease Models, Animal
hypoglycemia
Liver
chemistry
Failure to thrive
medicine.symptom
business
cardiomyopathy
030217 neurology & neurosurgery
Hepatomegaly
myopathy
Subjects
Details
- ISSN :
- 15732665 and 01418955
- Volume :
- 44
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi.dedup.....6bb96fc05f903b6ee290a8ee0bab7c7a