. A definitive diagnosis is made with genetic
testing. As there are numerous different mutations, sequencing of the
beta-glucosidase gene is sometimes necessary to confirm the diagnosis.
Prenatal diagnosis is available, and is useful when there is a known
genetic risk factor.
A diagnosis
Gaucher disease type 1
can also be implied by biochemical abnormalities such as high alkaline
phosphatase, angiotensin-converting enzyme (ACE) and immunoglobulin
levels, or by cell analysis showing “crinkled paper” cytoplasm and
glycolipid-laden macrophages.
Some lysosomal enzymes are elevated, including tartrate-resistant
acid phosphatase, hexosaminidase, and a human chitinase,
chitotriosidase. This latter enzyme has proved to be very useful for
monitoring Gaucher’s disease activity in response to treatment, and may
reflect the severity of the disease. (
Wikipedia diagnosis article on
Gaucher disease type 1 )
