Hypophosphatasia (HPP), also called Rathbun disease, is a rare condition you inherit from your parents. It keeps your bones and teeth from developing the right way, making them more likely to form incorrectly or to break.
Causes:
HPP is caused by changes (mutations) in the DNA of a gene. Normally, your teeth and bones build themselves up with calcium and phosphorus (a process called mineralization) to get stronger. With HPP, mineralization doesn't work the way it should.
Your body has checks and balances to make sure every process happens the way it’s supposed to. And too much mineralization is a bad thing if it happens in the wrong place, like your blood. So there are chemicals in your body that keep it in check.
But your body also makes an enzyme called alkaline phosphatase (ALP) that keeps these mineral-blocking chemicals from affecting your bones and teeth. This allows more mineralization in those spots, where it's needed.
When the gene that produces ALP is mutated, the enzyme can’t do its job. Mineral-blocking chemicals build up where they shouldn’t. That keeps minerals from getting into your bones, which makes them softer than normal.
Courtesy: WebMD
