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[Pompe disease or type 2 glycogenosis]
S Hansoul1, B Derkenne, B Daron
1Service de Pédiatrie, Université de Liège.
Revue Medicale De Liege
|May 13, 1999
Summary
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.