Infantile Glycogen Storage Disease Type II, also known as Pompe disease or acid maltase deficiency, is a rare, autosomal recessive genetic disorder that affects the body's ability to break down glycogen, a complex sugar molecule. It is caused by mutations in the GAA gene, which leads to a deficiency or malfunctioning of the enzyme acid alpha-glucosidase (GAA).
This disorder primarily affects the muscles, particularly the heart and skeletal muscles. Infants with Pompe disease typically present with muscle weakness and hypotonia, or floppy muscles, leading to difficulties with feeding, breathing, and swallowing. Due to the progressive nature of the disease, some affected infants may also experience an enlarged heart, respiratory problems, and delayed motor milestones.
Clinically, the disease can be divided into two forms: classic infantile-onset and late-onset. The classic infantile-onset form is characterized by severe symptoms within the first months of life and rapidly progresses, often resulting in death from heart or respiratory failure without treatment. The late-onset form, on the other hand, typically manifests in childhood, adolescence, or even adulthood, with milder symptoms that primarily impact the skeletal muscles.
Diagnosis of Infantile Glycogen Storage Disease Type II involves a combination of clinical signs and symptoms, biochemical muscle enzyme tests, and genetic testing. Treatment options for Pompe disease include enzyme replacement therapy, which involves intravenous administration of a modified form of the missing enzyme, as well as supportive care to manage symptoms and improve quality of life.
In summary, Infantile Glycogen Storage Disease Type II (Pompe disease) is a rare genetic disorder characterized by a deficiency or malfunction of the GAA enzyme, leading to the accumulation of glycogen in various tissues, particularly muscles. It
