Lowe Syndrome (LS) is a rare genetic condition that causes varying levels of physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. LS is caused by a single defective gene (an alteration or "mutation") in a gene called OCRL1. Because of this defective gene, an essential enzyme called PIP2-5-phosphatase is not produced. This is the underlying cause of Lowe syndrome.
The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome. Much research has taken place in the last few years. The gene has been mapped and the deficient enzyme has been identified, although its role is not fully understood. A very detailed medical description of Lowe Syndrome can be found on GeneReviews. This article is suggested for medical professionals and researchers who need to learn more about Lowe Syndrome, including the technical details of the genetics involved.
Lowe syndrome virtually always presents only in males, however exceptionally rare cases have been documented in females.
Individuals with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of Lowe syndrome cases, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases.
While not present at birth, many Lowe Syndrome individuals develop kidney problems at approximately one year of age. This is characterized by the abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconi syndrome may be mild and involve only a few substances or may be severe and involve large losses of many substances. Medications can be prescribed to replace the lost substances.