Hypophosphatasia
Hypophosphatasia (pronounced: hi-po-fos-fa-ta-sia) is a rare, often severe, metabolic disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding.
Etymology
The term "Hypophosphatasia" is derived from the Greek words "hypo" meaning "under", "phosphat" referring to "phosphate", and "asia" meaning "condition". This term was first used in medical literature in the 1940s.
Symptoms
The symptoms of Hypophosphatasia can range from mild to severe and may include premature tooth loss, soft bones, and skeletal abnormalities. Severe forms of this disorder can also affect the development of the lungs and brain.
Causes
Hypophosphatasia is caused by mutations in the ALPL gene. This gene provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase, which plays a role in mineralization.
Diagnosis
Diagnosis of Hypophosphatasia is based on clinical symptoms, biochemical testing, and genetic testing. Biochemical testing typically shows low levels of alkaline phosphatase in the blood.
Treatment
There is currently no cure for Hypophosphatasia. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include pain management, physical therapy, and in some cases, surgery.
Related Terms
External links
- Medical encyclopedia article on Hypophosphatasia
- Wikipedia's article - Hypophosphatasia
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