Background

Living with Lowe Syndrome

II. Background

A. Historical Review
Lowe syndrome was first recognized as a distinctive disease in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. They described three male children who had a similar set of problems that had not been previously associated with each other. Although they could not determine the cause of the disorder, they recognized a pattern to the symptoms and features and therefore described it as a "syndrome" - a set of symptoms which occur together.

The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Lowe syndrome is also known as the "oculo-cerebro-renal" syndrome of Lowe (OCRL), reflecting the three major organ systems involved in the disorder (eyes, brain, and kidney).

In subsequent years, doctors learned that Lowe syndrome is an hereditary condition that affects only males. It is caused by a single defective gene on the X-chromosome, one of the two sex-determining chromosomes (see IV. Genetics). Normally, this gene produces a specific enzyme that is essential to inositol metabolism. Because the gene is defective in Lowe syndrome, the enzyme cannot be produced. Therefore, the underlying cause of Lowe syndrome and its numerous features is the deficiency of this enzyme (see V. Research).

B. Incidence and Prevalence
Lowe syndrome is a rare disease. It has been identified in most cultures around the world and seems to have the same frequency in all populations. No one knows exactly how many individuals have Lowe syndrome. Estimates in the United States are between one and ten boys per million people, or about 250-2500 actual cases. As of the year 2000 the Lowe Syndrome Association (LSA) has been able to document 190 living individuals with Lowe syndrome in the U.S., ranging in age from 4 months to 40 years old. These probably represent fewer than half of all living cases in the U.S. In addition, the LSA has documented 23 deaths in the U.S. between 1972-1999 due to Lowe syndrome, with the age of death ranging from 5 years to 42 years old.