https://www.ncbi.nlm.nih.gov/pubmed/30360039 Glycogen storage disease
Korean J Pediatr. 2018 Oct 23. doi: 10.3345/kjp.2018.06968. [Epub ahead of print]
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Kim MS1, Song A1, Im M1, Huh J1, Kang IS1, Song J1, Yang A2, Kim J3, Kwon EK4, Choi EJ4, Han SJ5, Park HD6, Cho SY1, Jin DK1.

Abstract

PURPOSE:
Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. The present study described clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) in one tertiary medical center.

METHODS:
Five Korean patients (two males and three females) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea. Their medical records were retrospectively reviewed for data including clinical and genetic characteristics at diagnosis and clinical course after ERT.

RESULTS:
Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy (HCMP) in all patients with IOPD who showed a stable disease course during a median of 10 years of follow-up. LOPD patients showed improved hepatomegaly and liver transaminase level after ERT.

CONCLUSION:
Early identification of PD is very important, as ERT is effective for treatment. Patients with IOPD should be considered as candidates for clinical trials of new drugs in the future, as this study indicates the effectiveness of ERT in IOPD.