Introduction Pompe disease primarily affects skeletal and cardiac muscles. It is difficult to assess therapeutic efficacy of enzyme replacement therapy (ERT) using primary end points based on changes in weakness of large limb-girdle muscles, gait-endurance, and respiratory function, which all depend on variable day-to-day patient performance. In contrast, muscle improvement might be shown by as...

Enzyme replacement therapy (ERT) is important for the treatment of lysosomal storage disorders. Hypersensitivity reactions with ERT have been reported, and in these cases, desensitisation with the enzyme is necessary. Here we report the cases of 3 patients with lysosomal storage disorders, including Pompe disease and mucopolysaccharidosis type I and VI, who had IgE-mediated hypersensitivity rea...

Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of...

INTRODUCTION Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHODS Objective is to propose consensus-based treatment and management recommendations for late-ons...

Results 1) A 4-month-old female presented with hypotonia and cardiomegaly. She was CRIM negative and homozygous for p.R854X. She successfully received immunotolerance induction therapy (ITI) prior to ERT at 4.5 months. She remained antibody negative until 12 months, when titers rose to 1:800. Hex4 increased from 48.4 at baseline to 108.8. LVMI decreased from 220 at baseline to 119 g/m2. She sta...

Clinical and biochemical improvements are reported on Mucopolysaccharidosis type VI (MPS VI) patients on Enzyme Replacement Therapy (ERT) with rhASB (galsulfase, Naglazyme®), and preclinical and clinical studies have shown clinical benefits of early initiation. We report four unrelated MPS VI children who began ERT as infants (ages 5 days–10 months). The three older patients showed the first cl...

BACKGROUND Gaucher disease (GD) is a rare recessively inherited disorder caused by deficiency of a lysosomal enzyme, glucocerebrosidase. Accumulation of glucosylceramide or glucosylsphingosine in macrophages leads to increased production of ferritin and chitotriosidase and to decreases in hemoglobin concentration and platelet count, which are used as blood biomarkers. GD is treated by enzyme re...

[1] Cross-well electrical resistivity tomography (ERT) was used to monitor the migration of a saline tracer in a two-well pumping-injection experiment conducted at the Massachusetts Military Reservation in Cape Cod,Massachusetts. After injecting 2200mg/L of sodium chloride for 9 hours, ERT data sets were collected from four wells every 6 hours for 20 days. More than 180,000 resistance measureme...

The efficient introduction of somatic mutations in a given gene, at a given time, in a specific cell type will facilitate studies of gene function and the generation of animal models for human diseases. We have shown previously that conditional recombination-excision between two loxP sites can be achieved in mice by using the Cre recombinase fused to a mutated ligand binding domain of the human...