Table 10.

Diagnosis of Gaucher disease

•Glucocerebrosidase assay (on leukocytes, DBS, fibroblasts, amniocytes, chorionic villi) is

the gold standard.

•The assay uses a fluorescent substrate; less than 30% activity makes the diagnosis.

•Heterozygotes average 50% of normal β-glucocerebrosidase activity.

•20% of carriers demonstrate enzyme activity in the normal range.

•DNA screens for selected GBA mutations may detect common mutations but can lead

to ambiguous results when variants of unknown significance are found.

•DNA analysis is better for heterozygotes if the mutation is known.

Associated Findings

•Elevated serum acid phosphatase, chitotriosidase and angiotensin-converting enzyme

•Elevated plasma ferritin levels are commonly seen

•Decreased plasma cholesterol levels in unsplenectomized patients