Enzyme replacement therapy for 15 years in Pompe disease: case report
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Abstract
Background: Pompe's disease or Glycogen Storage Disease type II (OMIM #232300), is an inherited metabolic disorder caused by a mutation in the GAA gene. This mutation affects the production of the acid α-glucosidase enzyme, leading to the accumulation of glycogen in the lysosome, especially in cardiac and skeletal muscle triggering multiple signs and symptoms of variable presentation.
Case summary: The case presented is that of a 22-year old patient with a history of preterm birth and low weight, and a family history of GAA gene mutation in his parents who are carriers and twin brother who is not a carrier of this mutation. Beginning at 18 months old, the patient experienced difficulty feeding, facial muscle weakness, intermittent cyanosis, and progressive respiratory symptoms. He also presented with daily loose stools and liver abnormalities. After a series of adverse events, the diagnosis of glycogenosis was confirmed and treatment with enzyme replacement therapy was started, which resulted in improvement of symptoms. Currently, he remains stable with mild muscular and respiratory compromise.
Conclusions: This condition has a low prevalence and its presentation and severity vary. For its diagnosis, clinical suspicion and diagnostic tests such as enzymatic analysis and gene sequencing are required. Integral management involves several specialists and enzyme replacement therapy is the main treatment, although gene therapy shows promising advances.
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