Batten disease patients sometimes need to undergo urine tests to help physicians diagnose their condition.

What are urine tests?

The kidneys are organs that work to remove waste from the body. They do this by producing urine. Urine samples can provide many clues about a person’s overall health.

Pregnancy is a condition commonly detected through urine tests. Diseases such as diabetes and chronic kidney disease also may be diagnosed using this test. Urine tests also are used frequently to monitor the status of various medical conditions.

Types of urine tests

Urine is assessed in several ways. First, the overall color and/or the presence of bubbles are noted in the sample. Changes in color, such as redness, or excessive frothiness may indicate the presence of blood and excess protein respectively, both of which are abnormal.

Second, a urine dipstick examination may be performed. This involves immersing a chemically treated paper stick into the urine. If there are any abnormalities, such as blood components, the stick may change color. Changes are interpreted by a physician who compares it against a standard chart.

Urine samples also may need to be sent to the laboratory for more in-depth testing. Depending on the suspected disease, scientists may need to examine it under a microscope to check for the presence of red or white blood cells or bacteria.

Conditions such as Fabry disease and Pompe disease that involve an abnormal accumulation of compounds may lead to some of these substances appearing in the urine. These conditions can, therefore, be detected via a urine test. It is important to note these urine tests are very specific and are not routinely done unless the doctor strongly suspects these diseases.

Urine tests for Batten disease

Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a condition in which there is a build-up of a fatty pigment called lipofuscin in cells.

Although Batten disease can be confirmed only through genetic testing, a number of studies have suggested that testing urine for a substance known as dolichol may be useful in aiding the diagnosis of Batten disease.

Dolichol is a molecule that is considered a lipid itself; it normally exists between cell membranes. It also has been found in high concentrations in the brains of patients with Batten disease.

Other substances, such as a subunit of an enzyme called ATP synthase, also were found to be elevated in the urine of patients with Batten disease. ATP synthase creates ATP, the energy-storing molecule that enables all cells to function.

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