Lowe Syndrome: Facts About this Rare Genetic Disorder

Lowe Syndrome is an extremely rare genetic disorder that occurs in about 1 out of 500,000 births and it only strikes male babies. Lowe Syndrome causes a lifetime of both physical and mental problems. Another name for Lowe Syndrome is oculo-cerebro-renal syndrome, a name that is derived from the three organs that are involved - the, brain, and kidney.

Lowe Syndrome is inherited in a X-linked pattern, which means that the mutated gene is located on the X chromosome, one of the two sex chromosomes. Males only have one X chromosome, it just takes one altered copy of the gene in each cell for the boy to have Lowe Syndrome. Females have two X chromosomes, so it would take a mutation of both chromosomes for a girl to get the condition. Lowe Syndrome, like all X- linked conditions, is passed down through the mother. It can also be caused by a new mutation, without there being any history of the condition in the family.

Boys who are born with Lowe Syndrome have cataracts in both eyes and about half of them will develop glaucoma at an early age. They face a life time of monitoring and eye drops to keep the glaucoma under control. Many of the boys will develop kidney problems by their first birthday. This causes the development of Fanconi-type renal tubular dysfunction, which also occurs with other genetic conditions. Fanconi-type renal tubular dysfunction causes the body to loose bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate and glucose. It can be either sever, casing a loss of many of the elements, or mild causing the loss of just a few. The child will have to be on medications to replace the lost substances.

In some cases, a child born with Lowe syndrome will exhibit developmental delays and they can have a normal intellect or one that is severely impaired. They can have severe behavioral problems and/or seizures. One effect that most Lowe's children have is week muscle tone which leads to poor gross motor skills and problems breathing.

The Cause of Lowe Syndrome has been identified as a defect in the gene OCRL1 which is responsible for making an enzyme called PIP2-5-phosphatase. The gene is supposed to control the enzyme level which helps regulate the movement of substances into and out of the cell membrane. It is also responsible for regulating the actin cytoskeleton which is the fibers that make up the structural framework of cells which determines the shape of individual cells and makes it possible for cells to move.

Researchers know what happens, but they do not know why it causes the features of Lowe syndrome. The PIP2-5-phosphatase enzyme is present in cells in all parts of the body, but Lowe syndrom only affects the brain, kidneys, and eyes/ They are looking at the possibility that another enzyme, maybe one that is not present in the brain, kidneys, and eyes, counteracts the effect else where.

Sources:
Lowe Syndrome Association
National Institute of Health