Gaucher Disease (Gaucher's Disease) By Matt Demczko, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia Reviewed / Revised Oct 2021 | Modified Sep 2022 View Patient Education Diagnosis Treatment Key Points More Information Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside and related compounds.