TITLE:
Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy
AUTHORS:
Paula de Almeida Thomazinho, Fernanda Bertão Scalco, Maria Lúcia Costa de Oliveira, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena Jr.
KEYWORDS:
Infantile Pompe Disease, Motor Development, Enzyme Replacement Therapy, Glc4 Biomarker
JOURNAL NAME:
Open Journal of Clinical Diagnostics,
Vol.7 No.1,
January
17,
2017
ABSTRACT: After Enzyme Replacement
Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival
of Infantile Pompe Disease (IPD) patients through the first 18 months of age
has been documented and acquisitions of motor development are an important
outcome, but description of its course is scarce. Objective: To describe the
motor development in an IPD patient and its correlation with clinical
conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal
observational study of an IPD case at early stage. Clinical and biochemical
characteristics were obtained from patient records. Echocardiogram assessed
cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was
obtained by HPLC/UV, following sample derivatization with butyl 4-amino
benzoate and analysis on a C18 stationary phase column. Motor skills were
evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was
considered as motor percentile (p) below 10. Descriptive statistical analysis
was carried out and t-test was used to calculate the differences among means,
with significance level defined as p value 4 quantified,
motor development analysis showed an ascendant curve expected for age within achievement
of independent ambulation. Motor delay after pneumonia and maintenance of
hypotonia were noted. Variation of Glc4 appeared long after a
transitory intercurrence. Conclusion: In an IPD case, motor development can
have normal evolution despite hypotonia. Motor analysis seems to be sensitive
to follow-up clinical intercurrences. To elucidate the interaction among
prognostic factors and outcomes, further clinical studies need to be conducted.