Abstract
Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.
Highlights
Pompe disease (DP) or glycogenosis type II is a rare, progressive, autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA, 3.2.1.20) [1] [2]
Brazilian patients diagnosed with infantile onset PD (IOPD) under enzyme replacement therapy (ERT) were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017
Dramatic prognostic changes have been documented in IOPD since the approval of enzyme replacement therapy (ERT) treatment with recombinant human GAA enzyme such as in 2007 [1]
Summary
Pompe disease (DP) or glycogenosis type II is a rare, progressive, autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA, 3.2.1.20) [1] [2]. The multi-systemic lysosomal storage of glycogen and the release of other hydrolases into the cytoplasm cause cell death and autophagic pathway disorders, especially in the smooth, striated and cardiac muscles, nerve tissue and liver [3] [4] [5]. Major symptoms include hypotonia and muscular weakness, delayed motor development, massive hypertrophic cardiomegaly, macroglossia and variable degrees of hepatomegaly with elevated muscle enzymes; difficult deglutition, causing malnutrition, recurrent aspiration pneumonia and respiratory tract infections are common comorbidities found in IOPD patients [7] [8] [9] [10]. New clinical comorbidities have emerged from cohorts of IOPD in the follow-up ERT studies characterizing for some authors as a new IOPD phenotype, including as recently documented white matter anomalies affecting neuropsychological development [11] [12] [13]
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