A Case of Early Infantile Pompe Disease with Atypical Manifestation

A Case of Early Infantile Pompe Disease with Atypical Manifestation.

Pompe disease is a rare autosomal recessive lysosomal storage disease caused by defi ciency of acid α-glucosidase (GAA). This defi ciency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage, and organ dysfunction. In early onset patients (the classic infantile form), this glycogen accumulation leads to death, usually before the age of 1 year. Some p...

Infantile Pompe Disease: Atypical Variant.

Pompe disease (glycogen storage disease type II, glycogenosis II, or acid maltase defi ciency) is a lysosomal storage disorder in which an alpha-glucosidase (GAA) defi ciency causes intralysosomal accumulation of glycogen in all tissues, notably skeletal muscles. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the GAA, located on chro...

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy

infantile-onset pompe disease

how to cite this article: ashrafi mr, tavasoli ar. infantile-onset pompe disease. iran j child neurol autumn 2012; 6:4(suppl. 1):7-9. pls see pdf.   refe r ences: 1. kishnani ps, steiner rd. pompe disease diagnosis and management guidelines. american j med genetic. 2006 .vol; 8; no5. 2. case se, beckemyer aa. infantile pompe disease on ert-updateonclinicalpresentation,musculoskeletal management...

Headache: A Presentation of Pompe Disease; A Case Report

Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme. As a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. In Pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...