Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affe...

Glycogen storage disease type II - also called Pompe disease or acid maltase deficiency - is an autosomal recessive metabolic disorder, caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), lo...

OBJECTIVE We aim to present our experience with infantile Pompe disease with focus on the impact of availability of treatment on awareness, diagnosis, and management of such patients. METHOD Case - review study of patients diagnosed with infantile Pompe disease and literature search. RESULTS We identified five cases of infantile Pompe disease. The first was diagnosed by muscle biopsy; all o...

INTRODUCTION The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease. MAT...

Enzyme and gene replacement strategies have developed into viable therapeutic approaches for the treatment of Pompe disease (acid α-glucosidase (GAA) deficiency). Unfortunately, the introduction of GAA and viral vectors encoding the enzyme can lead to detrimental immune responses that attenuate treatment benefits and can impact patient safety. Preclinical and clinical experience in addressing h...

Background. As more women with metabolic muscle diseases reach reproductive age, knowledge of these diseases and their impact on pregnancy is necessary. Case. 23-year-old G1P0 with juvenile-onset Pompe disease (PD) delivered a viable infant by cesarean section at 32 weeks and 6 days. The pregnancy was complicated by worsening maternal pulmonary status, muscular strength, and mobility. Conclusio...

Pompe disease, also known as Glycogen Storage Disease type II (GSD II), is a rare autosomal recessive disorder , due to α-glucosidase A (GAA) deficiency. This was the first disease identified as a lysosomal storage disorder in 1963 (1) and is characterized by a glycogen accumulation in multiple tissues with a predilection of skeletal muscle and heart. Depending on age of onset, two different cl...

Adult-onset acid maltase deficiency may simulate limb-girdle dystrophy and the heart may represent a rare finding. Nevertheless, the cardiac phenotype of adults with GDSII is poorly characterized, so far. Descriptions of heart abnormalities in adults with Pompe disease are sparse. Recently, a relatively large cohort of adults (87 patients, median age 44 years old, 51% males) with Pompe disease ...

We present the cerebral MR findings of a 5-month-old girl with biopsy-proved Pompe disease and discuss the imaging characteristics with known central nervous system disease.

BACKGROUND Pompe disease is an inherited autosomal recessive deficiency of acid α-glucosidase (GAA) and is due to pathogenic sequence variants in the corresponding GAA gene. While the analysis of enzyme activity remains the diagnostic test of choice for individuals with Pompe disease, mutation analysis remains for establishing a definitive diagnosis. METHODS High resolution melting (HRM) anal...