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Learn More - Lowe Syndrome (LS)

What is Lowe Syndrome?

Lowe Syndrome (LS) is a rare genetic condition that causes physical and cognitive disabilities and medical problems. Also called the oculo-cerebro-renal syndrome of Lowe (OCRL), it was first described in 1952 by Dr. Charles Lowe and colleagues.

Who gets Lowe Syndrome?

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 individuals per million people, or about 250‑2500 actual cases. Because LS is an X-linked syndrome, the majority of affected individuals are males. There have been a few cases of females diagnosed with Lowe Syndrome. In the case of a female patient with LS, the female typically has one inactive X-chromosome and the active X-chromosome carries the mutation for Lowe Syndrome.

What causes Lowe Syndrome?

Lowe Syndrome is caused by a defective gene that results in the deficiency of an enzyme called phosphatidylinositol 4,5-biphosphate 5 phosphatase. This enzyme is essential to normal metabolic processes that take place in a small part of the cell called the Golgi apparatus. Because of the enzyme deficiency, cell functions that are regulated by the Golgi are abnormal, leading to various developmental defects including cataracts and problems in the brain and kidneys.

How is Lowe Syndrome diagnosed?

To diagnose LS, a small skin sample called a fibroblast is taken and sent to a Biochemical Genetics Laboratory for testing. Some individuals may choose to have blood drawn and sent for testing to determine the DNA mutation of the gene. Prenatal diagnosis is also available at some laboratories.

What is/is there treatment for Lowe Syndrome?

There is no cure for Lowe Syndrome, but many of the symptoms can be treated effectively through medication, surgery, physical and occupational therapies, vision therapy and orientation and mobility services, and special education. Nutritionists can also play a beneficial role in helping to outline and suggest appropriate diets.