Infantile Pompe Disease: Atypical Variant.

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...

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy

Broad Spectrum of c.2015 G>A Mutation in the GAA Gene Manifesting as a Mild Infantile Variant of Pompe Disease in Jordanian Patients.

A wide spectrum of Pompe disease exists ranging from the infantile form to a milder juvenile or adult form. The clinical heterogeneity primarily relates to the occurrence of different mutations that lead to a different rate of lysosomal glycogen accumulation and non-genetic factors that are thought to modulate the disease phenotypes. To date, almost 300 distinct GAA mutations have been identifi...

Long-Term Follow-Up of Two Siblings with a Non-Classic Infantile Variant Form of Pompe Disease.

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