Lowe Syndrome
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 a hereditary condition that affects mostly males. It is caused by a single defective gene on the X-chromosome, one of the two sex determining chromosomes. 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.
