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It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide. Sign In or Create an Account. Sign In. Advanced Search. Search Menu. Article Navigation. Close mobile search navigation Article Navigation. Volume Article Contents Abstract. Conflict of Interest statement. Gene therapy for glycogen storage diseases. Oxford Academic. Baodong Sun. Dwight D Koeberl.
Email: dwight. Revision received:. Select Format Select format. Permissions Icon Permissions. Abstract The focus of this review is the development of gene therapy for glycogen storage diseases GSDs. Table 1 Glycogen storage disorders 92— Enzyme deficiency.
Open in new tab. Figure 1. Open in new tab Download slide. Current treatment strategies. Examples of persistent symptom sequelae. Google Scholar Crossref. Search ADS. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c. The emerging phenotype of late-onset Pompe disease: a systematic literature review.
The emerging phenotype of long-term survivors with infantile Pompe disease. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.
Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type ia. Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy.
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. In vivo zinc finger nuclease-mediated targeted integration of a glucosephosphatase transgene promotes survival in mice with glycogen storage disease type IA. Gene targeting to the ROSA26 locus directed by engineered zinc finger nucleases.
Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia. Piccoli et al. Schroder, R.
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Gulijew, R. Wensel et al. Nishino, J. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice.
Contact a health care provider if you have questions about your health. Glycogen storage disease type IV. From Genetics Home Reference. Description Glycogen storage disease type IV GSD IV is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.
Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Research Studies from ClinicalTrials. Null mutations and lethal congenital form of glycogen storage disease type IV. Biochem Biophys Res Commun.
Epub Jul Interestingly, in a recent report, cardiomyopathy also improved in a GSD III patient when he started receiving a protein rich diet This was also the case for muscular symptoms improving under a protein rich diet in previous reports 12 , No side effects were noted including cholesterol and triglyceride levels, which remained stable during the study. Liver size and liver enzymes remained stable and no changes were observed by ultrasonography, indicating that the diet may also be beneficial for the liver.
In conclusion, we report on a new treatment concept of GSD III with d,lhydroxybutyrate, ketogenic and high-protein diet which was associated with an improvement of cardiomyopathy, a severe and fatal complication of the disease that occurred in our patient's sibling.
However, as this is a single patient study, we cannot affirm that our findings are solely due to our therapeutic interventions and could not be related to the variability of the disease even within the same family. J Inherit Metab Dis 13 : — Ann Intern Med : — Am J Med Genet 42 : — Eur J Pediatr : — Eur Heart J 18 : — Clin Imaging 32 : — Article Google Scholar. Lancet : — Ann N Y Acad Sci : — Depre C, Hue L Inhibition of glycogenolysis by a glucose analogue in the working rat heart.
J Mol Cell Cardiol 29 : — Ann Neurol 11 : — J Pediatr : — Zhonghua Yi Xue Za Zhi 89 : — PubMed Google Scholar. Download references. You can also search for this author in PubMed Google Scholar. Correspondence to Vassili Valayannopoulos. Reprints and Permissions. Valayannopoulos, V. Pediatr Res 70, — Download citation. Received : 31 January Accepted : 23 June
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