Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

ABSTRACT:

Background

Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in Thailand.

Methods

Twelve patients with infantile-onset Pompe disease (IOPD) including 10 Thai and two other Asian ethnicities were enrolled. To examine the molecular characteristics of Pompe patients, GAA gene was analyzed by PCR amplification and direct Sanger-sequencing of 20 exons coding region. The novel mutations were transiently transfected in COS-7 cells for functional verification. The severity of the mutation was rated by study of the GAA enzyme activity detected in transfected ce

SUBMITTER: Ngiwsara L 

PROVIDER: S-EPMC6737665 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature