case_images: PMC9957634_01
case_images: (a) Cardiac hypertrophy in a 6 months patient (XX) with DGAA; (b) cardiac hypertrophy in an infant (XY) with DGAA; (c) regression of cardiac hypertrophy in patient (XY) after 15 months of ERT.
case_images: CRIPE2023-8470341.001.jpg
case_images: PMC9957634_02_CRIPE2023-8470341.001.jpg
case_images: fig1
case_images: Transaminase and CK increased, 53 IU/L and 1069 IU/L, respectively), EKG, echocardiography (myocardial hypertrophy of the left ventricle, with normal kinetics and contractility, Figure 1(b)), and alpha-glucosidase assay (0.25 micromol/L/h, normal value > 1.45 micromol/L/h). To initiate the enzyme replacement therapy, the evaluation of the CRIM (cross-reactive immunological material) status was also performed. The child performed cadenced echocardiography, which showed a progressive improvement of the hypertrophic picture from the beginning of the ERT (Figure 1(c)).
case_images: PMC9957634_02
case_images: (a) Cardiac hypertrophy in a 6 months patient (XX) with DGAA; (b) cardiac hypertrophy in an infant (XY) with DGAA; (c) regression of cardiac hypertrophy in patient (XY) after 15 months of ERT.
case_images: CRIPE2023-8470341.001.jpg
case_images: PMC9957634_02_CRIPE2023-8470341.001.jpg
case_images: fig1
case_images: Transaminase and CK increased, 53 IU/L and 1069 IU/L, respectively), EKG, echocardiography (myocardial hypertrophy of the left ventricle, with normal kinetics and contractility, Figure 1(b)), and alpha-glucosidase assay (0.25 micromol/L/h, normal value > 1.45 micromol/L/h). To initiate the enzyme replacement therapy, the evaluation of the CRIM (cross-reactive immunological material) status was also performed. The child performed cadenced echocardiography, which showed a progressive improvement of the hypertrophic picture from the beginning of the ERT (Figure 1(c)).