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[Pompe disease or type 2 glycogenosis]
S Hansoul1, B Derkenne, B Daron
1Service de Pédiatrie, Université de Liège.
Insights
Pompe disease, a genetic glycogenosis, caused rapid respiratory failure in an infant due to acid maltase deficiency. Early diagnosis and novel therapies show promise for this severe condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Pompe disease, also known as Glycogen Storage Disease Type II, is a rare genetic disorder.
- It results from a deficiency in the enzyme acid alpha-glucosidase (GAA), leading to glycogen accumulation within lysosomes.
Observation:
- A three-month-old infant presented with rapidly progressing respiratory failure.
- Cardiomyopathy with left ventricular hypertrophy was observed, suggesting a potential diagnosis of Pompe disease.
Findings:
- The infant's condition was diagnosed as Pompe disease (Glycogen Storage Disease Type II), confirmed by enzymatic studies of hepatocytes.
- Genetic analysis identified common mutations (delta 18 and delta 525) associated with the disease.
- The prognosis is poor, with expected mortality between 4 to 8 months due to progressive organ deterioration.
Implications:
- Prenatal diagnosis is possible through enzymatic and DNA analysis via amniocentesis or chorionic villus sampling.
- Investigational treatments include gene therapy and enzyme replacement therapy using modified alpha-glucosidase, showing early encouraging results.
Abstract:
We report the case of a rapidly progressing respiratory failure of a three-month old infant, who shows a cardiomyopathy with left ventricule hypertrophy leading to a Pompe's disease diagnosis. This type 2 glycogenosis will be confirmed by the enzymatic study of the hepatocytes. It is a genetic pathology associated with a deficient activity of the acid maltase resulting in a intralysosomial accumulation of glycogen. The most generally responsible mutations are: delta 18 et delta 525. Prognosis is quite bad with a progressive deterioration of the heart, brain and muscular functions causing death at around 4 to 8 months. Type 2 glycogenosis may be diagnosed before birth through enzymatic study of a material collected through an amniocentesis or a biopsy on chorionic villi, and through DNA analysis. Curative treatment is still under study, but two main research orientations are being developed: genic therapy using viral vector and the correction of the enzymatic deficiency thanks to the synthesis of alpha glucosidase modified to specially get affixed to the heart and muscular cells. Both techniques have already show some encouraging results even though the clinical applications are not presently valid yet.