Lowe syndrome
Definition
Lowe syndrome is a rare genetic condition that affects males. It is caused by an enzyme deficiency. It affects many body systems including the eyes, the kidneys, and the brain.
Description
Lowe syndrome was first described by Dr. Charles Lowe in 1952. The syndrome is caused by a change (mutation) in the OCRL1 gene. This gene is responsible for the production of the enzyme phosphatidylinositol 4,5-bisphosphate 5-phosphatase. A mutation in the OCRL1 gene leads to a decrease in enzyme activity. This decrease in the activity of phosphatidylinositol 4,5-bisphosphate 5-phosphatase is responsible for the physical and mental problems associated with Lowe syndrome. The reason why a deficiency of this enzyme causes...
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