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Enzyme replacement therapy of infantile Gaucher disease
A Erikson1, K Johansson, J E Månsson
1Department of Pediatrics, County Hospital Boden, Goteborg, Sweden.
Insights
Enzyme infusion therapy normalized Gaucher disease (type 2) blood markers and organ size in an infant. However, it did not improve existing severe neurological symptoms, leading to treatment discontinuation.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Gaucher disease (type 2) is a severe inherited metabolic disorder.
- Enzyme replacement therapy (ERT) aims to correct the underlying enzyme deficiency.
Observation:
- Enzyme infusion therapy was initiated in an infant with infantile (type 2) Gaucher disease at 5.5 months of age.
- The patient presented with severe neurological symptoms at the start of treatment.
Findings:
- Hematological parameters and blood glucosylceramide levels normalized within three months.
- Spleen and liver sizes decreased, and neurological deterioration appeared to halt.
- No improvement in pre-existing neurological symptoms was observed.
- Lung function declined due to recurrent aspirations, leading to treatment cessation after seven months.
Implications:
- Enzyme replacement therapy may not reverse established severe neurological damage in infantile Gaucher disease.
- Early intervention before significant neurological compromise is crucial for potential ERT benefit.
- This case highlights the limitations of ERT in advanced neurological stages of Gaucher disease.
Abstract:
We report our experience from enzyme infusion therapy in a girl with infantile (type 2) Gaucher disease. When treatment was started at 5.5 months of age, she already had severe neurological symptoms. After three months of treatment, the hematological parameters and blood glucosylceramide levels were normalized. The spleen and liver sizes were reduced and the neurological deterioration seemed to have stopped. There was, however, no improvement of her existing neurological symptoms. Her lung function deteriorated because of constant aspirations. Enzyme treatment was stopped after seven months. We cannot recommend enzyme substitution therapy when severe neurological signs have already emerged.