Marco A. Curiati

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination o...

Effects of Aerobic Exercise Training in Late-Onset Pompe Disease Before and 1 Month after Enzyme Replacement Therapy

Pompe disease is a progressive multisystem disease caused by a lysosomal acid α-glycosidase enzyme (GAA) defi ciency, resulting in lysosomal accumulation of glycogen. The late-onset form is characterized by progressive skeletal and respiratory muscle dysfunction leading to functional disability and impairment of quality of life. Enzyme replacement therapy (ERT) and treatments, such as protein-enriched diet and exercise training, have been proposed as possible countermeasures for muscle impairment in patients with late-onset Pompe disease (LOPD). However, there are no established guidelines on therapeutic exercise for individuals with LOPD, and evidence of a benefi cial effect of exercise training is relatively scarce in these patients, and is mainly before receiving ERT. This retrospective study reports the results of a home-based submaximal aerobic exercise on functional capacity and pulmonary function in a patient with LOPD with mild respiratory manifestation and moderate skeletal muscle disease, prior to ERT regimen and 1 month after receiving ERT.

Effects of Exercise Training on Functional Capacity and Quality of Life in a Patient with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy

Pompe disease (PD) causes a progressive muscular weakness and impairment of patients’ mobility. Many patients develop intolerance to exercise due to reduced activity and consequent decline in muscle function. Exercise training prevents physical deconditioning and muscle wasting. Enzyme replacement therapy (ERT) was recently introduced, and has modifi ed the course of the disease. Other therapeutic interventions, such as exercise training, have been proposed as possible countermeasures for muscle impairment in patients with late-onset PD. We report the results of a 12-week home exercise training program on functional capacity and quality of life in a 20-year-old male patient with PD receiving ERT for 2 years.