Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease

Niyazov, Dmitriy; Lara, Diego

doi:10.31486/toj.18.0049

Cited by 3 publications

(2 citation statements)

References 13 publications

(16 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…7) However, it has a significant effect on most patients with IOPD, significantly prolonging the lifespan of patients. [7][8][9] Moreover, the early initiation of treatment results in best outcomes. Therefore, early diagnosis is particularly important.…”

Section: Discussionmentioning

confidence: 99%

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease

Cui

Wang

et al. 2020

Int. Heart J.

View full text Add to dashboard Cite

Pompe disease (PD) is a rare and fatal neuromuscular disease, which is an autosomal recessive disorder. This is the first study to report a case of the compound heterozygous c.1822C>T and c.2297A>C mutations of the GAA gene in mainland Chinese patient, which led to the classic infantile-onset Pompe disease (IOPD) characterized by hypertrophic cardiomyopathy. This case highlights that the detection of GAA activity in peripheral blood by dried blood spot and GAA gene analysis can clarify the diagnosis of IOPD and provides the genetic counseling to those parents whose children have IOPD for giving birth in the future. Although PD is rare, and universal screening has not yet been established, we suggest that clinicians should consider the possibility of Pompe in the presence of hypertrophic cardiomyopathy.(Int Heart J 2020; 61: 178-182)

show abstract

Section: Discussionmentioning

confidence: 99%

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease

Cui

Wang

et al. 2020

Int. Heart J.

View full text Add to dashboard Cite

show abstract

“…Lysosomal dysfunction affects, basically, all body tissues, although its serious effects mainly concern the central nervous system, meaning that affected patients display progressive psycho-neurological impairments, accompanied by a broad spectrum of other clinical phenotypes, such as seizures, facial and other bone deformities, problems with vision and hearing, difficulty breathing, anemia and an enlarged spleen or liver [98,99]. For many LSDs, there are approved disease-specific therapies based on enzyme replacement (ERT) [100][101][102], or on intravenous administration of recombinant proteins [103][104][105], accompanied by treatment of the neurological complications, such as anticonvulsant medication, ventilatory support, assistance for patients with learning disability, orthopedic interventions and nutritional support [106,107]. Despite the good tolerability demonstrated by ERT, unfortunately, many symptoms, even after long-term treatment, are not reversible [108].…”

Section: Lysosomal Storage Diseases (Lsds)mentioning

confidence: 99%

Stem Cell Research Tools in Human Metabolic Disorders: An Overview

Ricci

Cacialli

2021

Cells

View full text Add to dashboard Cite

Metabolic disorders are very common in the population worldwide and are among the diseases with the highest health utilization and costs per person. Despite the ongoing efforts to develop new treatments, currently, for many of these disorders, there are no approved therapies, resulting in a huge economic hit and tension for society. In this review, we recapitulate the recent advancements in stem cell (gene) therapy as potential tools for the long-term treatment of both inherited (lysosomal storage diseases) and acquired (diabetes mellitus, obesity) metabolic disorders, focusing on the main promising results observed in human patients and discussing the critical hurdles preventing the definitive jump of this approach from the bench to the clinic.

show abstract

To detect potential pathways and target genes in infantile Pompe patients using computational analysis

Karadağ

Gürel

2022

Bioimpacts

View full text Add to dashboard Cite

Introduction: Pompe disease (PD) is a disease caused by pathogenic variations in the GAA gene known as glycogen storage disease type II, characterized by heart hypertrophy, respiratory failure, and muscle hypotonia, leading to premature death if not treated early. The only treatment option, enzyme replacement therapy (ERT), significantly improves the prognosis for some patients while failing to help others. In this study, the determination of key genes involved in the response to ERT and potential molecular mechanisms were investigated. Methods: Gene Expression Omnibus (GEO) data, accession number GSE38680, containing samples of biceps and quadriceps muscles was used. Expression array data were analyzed using BRB-Array Tools. Biceps group patients did not receive ERT, while quadriceps received treatment with rhGAA at 0, 12, and 52 weeks. Differentially expressed genes (DEGs) were deeply analyzed by DAVID, GO, KEGG and STRING online analyses, respectively. Results: A total of 1727 genes in the biceps group and 1198 genes in the quadriceps group are expressed differently. It was observed that DEGs were enriched in the group that responded poorly to ERT in the 52nd week. Genes frequently changed in the weak response group; the expression of 530 genes increased and 1245 genes decreased compared to 0 and 12 weeks. The GO analysis demonstrated that the DEGs were mainly involved in vascular smooth muscle contraction, lysosomes, autophagy, regulation of actin cytoskeleton, inflammatory response, and the WNT signaling pathway. We also discovered that the WNT signaling pathway is highly correlated with DEGs. Several DEGs, such as WNT11, WNT5A, CTNNB1, M6PR, MYL12A, VCL, TLN, FYN, YES1, and BCL2, may be important in elucidating the mechanisms underlying poor response to ERT. Conclusion: Early diagnosis and treatment of PD are very important for the clinic of the disease. As a result, it suggests that the enriched genes and new pathways emerging as a result of the analysis may help identify the group that responds poorly to treatment and the outcome of the treatment. Obtained genes and pathways in neonatal screening will guide diagnosis and treatment.

show abstract

Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease

Cited by 3 publications

References 13 publications

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease

Stem Cell Research Tools in Human Metabolic Disorders: An Overview

To detect potential pathways and target genes in infantile Pompe patients using computational analysis

Contact Info

Product

Resources

About