Gaucher

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the GBA1 gene, resulting in deficient activity of the enzyme acid β glucosidase.

Gaucher disease is a lysosomal storage disorder caused by a pathogenic variant in the gene responsible for producing the enzyme acid β-glucosidase. More than 300 alleles carrying pathogenic variants have already been identified.¹

Gaucher disease is rare and has signs and symptoms that can be confused with those of many other diseases. However, some tests allow the definitive diagnosis of the disease.

Klinische casus: Een 18-jarige met heuppijn en mank lopen

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