Enzyme Deficiency Analysis

Due to the extensive medical research on Lowe Syndrome in the last decade, a reliable biochemical diagnostic test is now available. What makes this test possible is the discovery of the deficient enzyme in 1995 by Dr. Robert Nussbaum and his colleagues at the National Institutes of Health (NIH). The missing enzyme is called phosphatidylinositol 4,5-biphosphate 5 phosphatase.

Additional Information can be found at the NCBI PubMed database:

Olivos-Glander IM, Janne PA, Nussbaum RL (1995): The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet. 1995 Oct;57(4):817-23.

Suchy SF, Olivos-Glander IM, Nussbaum RL (1995): Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet. 1995 Dec;4(12):2245-50.

The test is done by obtaining a small skin sample, usually in the child's local community. Over several weeks, a fibroblast cell culture is grown using the skin sample. This culture is sent to one of the available testing laboratories, such as the Biochemical Genetics Laboratory at Baylor College of Medicine in Houston, Texas, where it usually takes a few weeks to obtain the results. Additional information from Baylor College is available at http://www.bcmgeneticlabs.org/tests/biochem/phosphatidylinositol-4.html.

Costs involved include physician's fees for taking the skin sample, the cost for establishing the initial culture, shipping costs, and the cost of analysis at the Baylor lab. Currently, the cost of the lab analysis is $320. Many insurance programs will cover most of these costs. Parents and their physicians who are interested in making arrangements to have the test done should contact Dr. O'Brien. He can be reached by phone at: 1-800-246-2436 or 713-798-4982, or by e-mail at bioc@bcm.tmc.edu.