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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.

Frequently Asked Questions about Lowe Syndrome

What are the common features of Lowe Syndrome?

  • Cataracts in both eyes, found at birth or shortly after
  • Glaucoma (in about half the cases)
  • Poor muscle tone and delayed motor development
  • Mental retardation, ranging from borderline to severe
  • Seizures (in about half the cases)
  • Severe behavior problems (in some cases)
  • Kidney involvement ("Leaky" kidneys, or renal tubular acidosis)
  • Short stature
  • Tendency to develop rickets, bone fractures, scoliosis and joint problems
  • Expected life span of about 30-40 years if no complications.

What are boys with LS like?

Generally, they are affectionate and sociable, love music, and have a great sense of humor.

How is LS treated?

There is no cure, but many of the symptoms can be effectively treated through medication,
surgery, physical and occupational therapies, and special education.

What about research?

In 1992 the gene that causes LS was found. In 1995 researchers discovered that the gene defect causes an enzyme deficiency. Researchers are continuing to investigate the function of the gene and the complicated biochemistry and cellular mechanisms of LS. Other areas that researchers have investigated in recent years include behavior problems and clinical care.

Can LS be prevented?

In families in which a case of LS has occurred, testing to determine carrier status of at-risk females can be done. Various family planning options are available, including prenatal testing. Families should consult with a geneticist to learn more about their options

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