Pompe disease, also referred to as glycogen storage disease type II and acid maltase deficiency, is a genetic muscle disorder caused by a deficiency of acid a-glucosidase (GAA, also referred to as acid maltase). This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle cells (Fig 1) the most seriously affected. Cl...

Introducción: gracias a la nueva herramienta de tratamiento con terapia reemplazo enzimático en enfermedad Pompe, se ha reducido mortalidad corto plazo. Contenidos: esta permite los pacientes mantener independencia funcional y adaptación las habilidades motrices para su participación varios aspectos vida diaria. Conclusiones: el abordaje estos debe ser multidisciplinario, dar un manejo integral...

A 5-month-old male infant born to consanguinious marriage with past history of feeding difficulties in the form of suck-rest-suck cycle, forehead diaphoresis, and poor weight gain since early infancy presented with increasing severity of respiratory distress and apathy of 2 weeks duration. Physical examination revealed tachypnea, tachycardia, severe respiratory distress with chest wall retracti...

BACKGROUND Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigates the cost-effectiveness of ERT compared to su...

In the year 500 before Christ, the Greek philosopher Heraclitus said, “if one does not expect the unexpected, one will not find it out, since the mind is not open to it, and one will not search for it.” This is, in short, the problem I have with predicting what the future therapeutic options for Pompe disease might be. Leaving out the unthinkable, there are still plenty of options left, but how...

Certains matériaux changent de propriétés physiques sous lumière. Comprendre les mécanismes élémentaires pilotant ces transitions phases photoinduites, où l'excitation électronique réorganise la structure moléculaire et induit nouvelles fonctions, nécessite d'observer matière se transformer à l'échelle temps ~10 femtosecondes l’aide d’expériences pompe-sonde spectroscopie optique au laboratoire...

BACKGROUND Pompe disease is an autosomal recessive metabolic disorder caused by the deficiency of the lysosomal enzyme acid α-glucosidase. This deficiency leads to glycogen accumulation in the lysosomes of muscle tissue causing progressive muscular weakness particularly of the respiratory system. Enzyme replacement therapy (ERT) has demonstrated efficacy in slowing down disease progression in i...

BACKGROUND Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated the specific clinical features of Pompe disease in adults, and mapped out the distribution and severity of muscle weakness, and the sequence of involvement o...

Infantile-onset Pompe disease (IOPD) presents with hypotonia, muscle weakness, motor delay, cardiomyopathy, feeding problems, and respiratory insuffi ciency. An early diagnosis is important to start enzyme replacement therapy (ERT) early.1 Alpha-glucosidase (GAA) enzyme assay on dried blood spots (DBS) allows a diagnosis of Pompe disease (PD) more simple and fast. GAA assay on DBS is reliable, ...