pompe disease research paper

Pompe disease is a rare genetic disorder that affects muscle function. Learn about its clinical features, diagnosis, and treatment options from this overview article.

Pompe disease is a genetic disorder produced by mutations in the GAA gene leading to absence or reduced expression of acid alpha-glucosidase, an enzyme that metabolizes the breakdown of glycogen into glucose. There are two main phenotypes, the infantile ...

Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported. GAA catalyzes the hydrolysis of α-1,4 and α-1,6-glucosidic bonds of glycogen and its ...

Purpose of Review This review summarizes the clinical presentation and provides an update on the current strategies for diagnosis of Pompe disease. We will review the available treatment options. We examine newly approved treatments as well as upcoming therapies in this condition. We also provide commentary on the unmet needs in clinical management and research for this disease. Recent ...

Disease-specific therapy is available for only a handful of neuromuscular disorders, including Pompe disease—a debilitating metabolic myopathy caused by a deficiency of the lysosomal glycogen-catabolising enzyme, acid α-glucosidase (GAA). Enzyme replacement therapy (ERT) with recombinant human GAA, alglucosidase alfa, was approved (by the US Food and Drug Administration and the European ...

Summary: There are significant unmet needs as it relates to clinical care and therapeutics in Pompe disease as well as in research. The currently available treatments lose effectiveness over the long run and do not have penetration into neuronal tissues and inconsistent penetration in certain muscles. More definitive gene therapy and enzyme ...

Pompe disease is a neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), hydrolyzing glycogen to glucose. Pathological glycogen storage, the hallmark of the disease, disrupts the metabolism and function of various cell types, especially muscle cells, leading to cardiac, motor, and respiratory dysfunctions. The spectrum of Pompe disease ...

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find a cure. However, both sides would agree that many findings in basic science-such as the Nobel prize ...

Abstract Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset phenotypes.

Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid α-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and ...

Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop cellular dysfunction and muscle damage. PD can be classified into two classic forms, namely infantile-onset PD (IOPD) and late-onset PD (LOPD ...

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. Pompe disease manifests with a broad spectrum ...

Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which differ in age of onset, organ involvement, and severity of disease. Assessment of acid alpha-glucosidase ...

Newborn screening for Pompe has been implemented in 20 states and several countries across the world. The rates of later-onset disease phenotypes for Pompe and pseudodeficiency alleles are higher than initially anticipated, and these factors must be considered during Pompe disease newborn screening. This report presents an overview of six years ...

Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle ...

Abstract. Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the ...

Pompe disease is a rare, progressive and multisystemic disease. The heterogeneous presentation of the disease varies by: age of onset; organ involvement; degree and severity of muscle damage; rate of progression and response to the approved therapy (recombinant human acid-alpha glucosidase alglucosidase alfa); and other approaches to disease management. Here, we describe the framework of an ...

Pompe disease, also known as glycogen storage disease type II (GSDII) or "acid maltase deficiency", is caused by the absence or deficiency of acid alpha-glucosidase (GAA), a lysosomal enzyme that is responsible for the cleavage of the α-1,4- and α-1,6-glycosidic bonds of glycogen to glucose. The deficiency of the enzyme leads to the ...

This guideline is intended as an educational resource. It highlights current practices and therapeutic approaches to the diagnosis and management of the multiple complications of Pompe disease, including emerging therapies such as enzyme replacement therapy and other potential therapies.

Research Papers A research paper is a document that presents the findings of a scientific study or research project. It is written by researchers who conduct experiments or investigations to explore a specific topic or question. The paper follows a specific format, including sections like introduction, methods, results, discussion, and conclusion.

What was learned and how? Researchers looked at GAA gene variants from people with Pompe disease using a database called the Pompe Registry. Since 2004, the Pompe Registry has collected worldwide clinical information on people with Pompe disease and their gene changes.

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find ...

Pompe disease, also known as acid maltase deficiency (AMD) or glycogen storage disease II, is a rare, inherited glycogen storage disease. that afects the heart and skeletal muscles. There are two types of Pompe disease: infantile-onset and noninfantile-onset (juvenile or adult). Pompe is classified as a metabolic muscle disorder, one of a group ...

What is Pompe disease? Pompe disease (also known as acid-maltase disease and glycogen storage disease II) is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen, a ...