Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel <i>GAA</i> gene 4 bp deletion: A case study

Cerón‐Rodríguez, Magdalena; Castillo‐García, Daniela; Acosta‐Rodríguez‐Bueno, Carlos‐Patricio; Aguirre‐Hernández, Jesús; Murillo‐Eliosa, Juan‐Rafael; Valencia-Mayoral, Pedro; Escobar-Sánchez, Argelia; Salgado‐Loza, Juan‐Luis

doi:10.1002/mgg3.1957

Cited by 4 publications

(2 citation statements)

References 47 publications

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“…Wczesne rozpoznanie PD jest kluczowe dla poprawy odsetka przeżycia pacjentów, co szczególnie krytyczne jest w postaci pojawiającej się przed ukończeniem 12 miesiąca życia, gdzie przebieg choroby jest niezwykle szybki i ciężki. [4] Ze względu na charakter objawów występujących w fenotypie PD o późnym początku, który często przypomina obraz innych chorób neurologicznych próba dojścia do właściwego rozpoznania często jest nieoczywista i długa. Szczególnie w fenotypie pojawiającym się w ciągu kilku ostatnich lat u pacjentów z LOPD i IOPD, związanych z wprowadzeniem terapii ERT, która znacząco wydłużyła życie i pozwoliła na dłuższe monitorowanie i obserwację zmian zachodzących u tych pacjentów.…”

Section: Tabela 1charakterystyczne Objawy Kliniczne Pacjentów Z Pd Z ...unclassified

Pompe disease - What do we currently know about the disease?

Białowąs

Mazurek²,

Aghadi³

et al. 2023

J Educ Health Sport

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Introduction: Pompe disease (PD) is a rare metabolic disorder caused by a partial or complete deficiency of acid α-glucosidase (GAA) which leads to lysosomal accumulation of glycogen. Excessive amounts of glycogen accumulate mainly in the cells of the heart and skeletal muscles and cause dysfunction of these tissues. It is inherited in an autosomal recessive manner. The most common diagnostic methods include genetic tests and the measurement of enzyme activity in leukocytes or fibroblasts. A screening test is also available that tests the enzyme activity in dried blood spot (DBS). The treatment of PD is mostly based on synthetic GAA enzyme supply to the patients. The therapy reduces glycogen storage and improves muscle function, decreases heart size and prolongs the lives of those with infantile form of PD. In the adult onset of the disease treatment increases physical efficiency and reduces the progression of respiratory failure. Aim of the study: Systematization of current knowledge about Pompe disease with particular emphasis on possible clinical presentations, diagnostics and therapeutic options. Material and methods: Literature review based on PubMed data using the following keywords: Pompe disease, Glycogenosis type ii, glucosidase alpha Summary : Pompe disease is a rare disease with many problems related to diagnosis and possible therapies. Its symptoms can be very misleading and cause a delay in diagnosis . It is critical to start the therapy as soon as possible to best manage the disease. The prognosis of PD is poor, especially in children under 12 months of age. Gene therapy research is currently underway and early results are very promising. There is still much to learn about dealing with this disease.

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Section: Tabela 1charakterystyczne Objawy Kliniczne Pacjentów Z Pd Z ...unclassified

Pompe disease - What do we currently know about the disease?

Białowąs

Mazurek²,

Aghadi³

et al. 2023

J Educ Health Sport

View full text Add to dashboard Cite

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“…Other non-heme iron enzymes that repair damage to alkylated DNA and RNA through oxidative demethylation. 16…”

Section: Ftomentioning

confidence: 99%

Mechanism of Action of Glucomannan as a Potential Therapeutic Agent for Type 2 Diabetes Mellitus Based on Network Pharmacology and Molecular Docking Simulation

2023

TJNPR

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Glucomannan is a polysaccharide with several health benefits such as the ability to lower blood sugar, slow gastric emptying time, accelerate satiety, and modify intestinal microbial metabolism. Therefore it has a potential as an alternative therapy for type 2 diabetes mellitus (T2DM). This study explores the mechanism of action of glucomannan as a potential therapeutic agent for T2DM through network pharmacology and molecular docking simulations. Glucomannan and T2DM target proteins were searched using GeneCard and OpenTarget Platform, respectively. The connectivity between T2DM target proteins and glucomannan were done using Cytoscape and Venny diagrams. Virtual screening was performed using Pyrx software with protein-targeted T2DM and visualization was done using Discovery Studio. There were 9 key targets related to the mechanism of action of glucomannan based on target connectivity construction. From the docking results, the lowest binding affinity of -9.6 kcal/mol was obtained between glucomannan and 3WY1 (PDB ID of GAA/alpha-glucosidase). This binding affinity was comparable to that obtained for the positive controls; acarbose and miglitol, with binding affinity of -9.7 kcal/mol for acarbose-3WY1 complex. The 3D structure visualization showed that glucomannan and acarbose occupy the same active site on the 3WY1 structure. The results of this study indicate that the most probable mechanism of action of glucomannan is inhibition of α-glucosidase, and therefore could be a potential alternative therapeutic agent for T2DM.

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Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Cerón‐Rodríguez

Castillo‐García

Acosta‐Rodríguez‐Bueno

et al. 2022

Molec Gen & Gen Med

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Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α‐glucosidase (GAA) with intralysosomal glycogen accumulation in multiple tissues. We present the case of a 5‐month‐old male with hypertrophic cardiomyopathy, hypotony, feeding difficulties, and oxygen requirement since birth. At 3 months of age, he develops heart failure, respiratory impairment, and neurological deterioration. The echocardiogram revealed concentric hypertrophic cardiomyopathy with left‐diastolic dysfunction. We found increased creatine‐phosphokinase, lactate dehydrogenase, and urinary glucose tetrasaccharide levels, 50% of PAS‐positive vacuolated lymphocytes in the peripheral blood smear, and low GAA activity. Sequencing of coding exons and flanking intronic sequences revealed a novel homozygous 4 bp deletion in exon 15 of the GAA gene (c.2066_2069delAGCC/p.Glu689Glyfs*6). IOPD was diagnosed. At 5 months old, we started enzyme replacement therapy with an alpha‐alglucosidase of 20 mg/kg weekly and immunomodulation with intravenous immunoglobulin. He developed two cardiorespiratory arrests with subsequent neurologic deterioration, convulsive crisis, and respiratory failure and died at 9 months old. We found the usual PD hallmarks in the heart, striated muscle, and liver but also we found neuronal lesions characterized by cytoplasm vacuolization with PAS‐positive granules in the central nervous system and myenteric plexus. We describe a novel GAA gene pathogenic variant with a particular phenotype characterized by classic IOPD and neurologic histopathological findings. Enhancing the knowledge of lysosomal diseases is critical to improving the diagnosis and treatment of these patients.

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Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Cited by 4 publications

References 47 publications

Pompe disease - What do we currently know about the disease?

Pompe disease - What do we currently know about the disease?

Mechanism of Action of Glucomannan as a Potential Therapeutic Agent for Type 2 Diabetes Mellitus Based on Network Pharmacology and Molecular Docking Simulation

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

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