Clinical diversity is a common phenomenon in lysosomal storage diseases and has led to the introduction of clinical subtypes. The natural course of Pompe disease is primarily dictated by the type of mutations in the acid alpha-glucosidase gene (GAA) or rather by the residual enzyme activity of acid alphaglucosidase resulting from the combination of the mutated allelic products. Thirty per cent ...

UNLABELLED Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases. METHODS A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases). RESULTS Vacuoles with or without glycogen storage were found in 18 cases. All case...

The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme. A recent advance appears enzymatic replacement therapy (ERT) in glycogenosis type II in both infantile, juvenile and adult form. Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe dise...

Introduction Enzyme replacement therapy (ERT) with Myozyme has significantly improved the prospect for patients with classic infantile Pompe disease. Yet, about 50% of patients still do not survive ventilator-free beyond 2.5 years. In the present study we compared the safety and efficacy of treatment with 40 mg/kg/week to that of 20 mg/kg/ every other week (eow) in 10 infantile patients to dete...

Enzyme replacement therapy (ERT) with alglucosidase alfa has improved clinical outcomes and prolonged survival for patients with infantile Pompe disease (IPD). However, patients characterised as Cross-Reactive Immunological Material (CRIM)negative (CN) mount an immune response against ERT resulting in clinical decline and, ultimately, death. A prophylactic immune tolerance induction (ITI) proto...

Pompe disease is characterized by deficiency or absence of activity of the lysosomal enzyme acid alphaglucosidase. As a result of ineffective metabolism, glycogen progressively accumulates in muscle tissues. Patients with an aggressive classic infantile-onset form generally rapidly die of cardiorespiratory failure. A cross-reactive immunological material (CRIM)-negative status is predictive of ...

INTRODUCTION Pompe disorder is a rare glycogen storage disorder that is due to a deficiency of the lysosomal alpha glycosidase enzyme. The heart, skeletal muscle, liver and nervous system can be affected from the lysosomal glycogen accumulation. Symptoms such as muscle weakness, hypotony, myopathy and respiratory failure develop. The onset may be at the infantile, adolescent or adult period dep...