Gene photo of gauchers disease

Is groedinger's disease real

Gaucher disease (GD, ORPHA) is a rare, autosomal recessive genetic disorder.
gene photo of gauchers disease

Groedinger's disease symptoms

A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver .

Gaucher disease enzyme deficiency

Three types of Gaucher disease are described, each with different manifestations 1: The glucosylceramide beta (GBA) gene provides instructions for making ß-glucocerebrosidase.

Gaucher disease treatment
Gaucher disease results from mutations in the gene, leading to deficient glucocerebrosidase activity within lysosomes.