Author(s)

Paula De Almeida Thomazinho¹, Eliana Pelissari², Regina Célia Beltrão Duarte³, Carolina Fishinger Moura De Souza⁴, Heloíse Helena Siqueira Borges⁵, Maria Da Glória Cruvinel Horta⁶, Liane De Rosso Giuliani⁷, Ana Maria Martins⁸, Lilian Stewart⁹, Dafne Dain Gandelman Horovitz¹⁰, Juan Clinton Llerena¹⁰

¹Motor Physical Therapy Unit, Fernandes Figueira National Institute/FIOCRUZ, Rio de Janeiro, Brazil.
²Clinical Medical Unit, Dr. Jeser Amarante Faria Children’s Hospital, Joinville, Brazil.
³Pediatric Neurology Unit, Santa Casa de Misericórdia do Pará Foundation, Belém, Brazil.
⁴Sciences Medical Genetics Unit, Service of Information on Inborn Errors of Metabolism, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
⁵Clinical Medical Unit, University of Cuiabá UNIC, Cuiabá, Brazil.
⁶Santa Casa de Belo Horizonte, Belo Horizonte, Brazil.
⁷Genetics Unit, Federal University of Mato Grosso do Sul, Campo Grande, Brazil.
⁸Inborn Errors of Metabolism and Genetics Unit, Federal University of Sao Paulo, UNIFESP, Sao Paulo, Brazil.
⁹Pediatric Intensive Care Unit, State Institute of Cardiology of Rio de Janeiro, IECAC, Rio de Janeiro, Brazil.
¹⁰Medical Genetics Unit, Fernandes Figueira National Institute of Women, Children and Adolescent Health/FIOCRUZ, Rio de Janeiro, Brasil.

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.

Motor Development, Child Disability, Glycogen Storage Disease Type II, Enzyme Replacement Therapy

Thomazinho, P. , Pelissari, E. , Duarte, R. , De Souza, C. , Borges, H. , Horta, M. , Giuliani, L. , Martins, A. , Stewart, L. , Horovitz, D. and Llerena, J. (2019) Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy. Open Journal of Clinical Diagnostics, 9, 16-32. doi: 10.4236/ojcd.2019.91002.