Acknowledgement of Hypophosphatasia has not been added yet.

1.0http://www.orpha.net/data/patho/GB/uk-hypophosphatasia.pdf

Synonyms for Hypophosphatasia has not been added yet.

Researchers have concluded that Hypophosphatasia is caused by mutations in the ALPL gene (http://ghr.nlm.nih.gov/condition/hypophosphatasia). This gene provides instructions for creating an enzyme called alkaline phosphatase, which plays an essential role in mineralization of bones in the body. When the genetic code is mutated, the abnormal version of alkaline phosphatase that is produced cannot participate effectively in the mineralization process (http://ghr.nlm.nih.gov/condition/hypophosphatasia). As a result the substances that are normally processed by this enzyme will build up in the body (e.g. phosphoethanolamine, pyridoxal 5’-phosphate, and inorganic pyrophosphate). It is this accumulation of substances that causes the defective mineralization of bones (http://rarediseases.org/rare-diseases/hypophosphatasia/). Hypophosphatasia is inherited in an autosomal recessive pattern, which means that two copies of the gene in each cell are altered. Usually, each of the parents will carry a copy of the mutated gene but will not exhibit the disease symptoms themselves (http://ghr.nlm.nih.gov/condition/hypophosphatasia).

Hypophosphatasia is an extremely variable disease because five different clinical forms have been identified based upon the age of onset (http://rarediseases.org/rare-diseases/hypophosphatasia/). These are the perinatal, infantile, childhood, adult, and odontohypophosphatasia forms. The severity of the symptoms depend primarily on the amount of alkaline phosphate activity in the body, with a lower enzyme level correlating to a more serious case (https://rarediseases.info.nih.gov/gard/6734/hypophosphatasia/resources/1). Since Hypophosphatasia is so variable, not all patients will have the major symptoms mentioned below (http://rarediseases.org/rare-diseases/hypophosphatasia/). When the disease occurs before childbirth (prenatal benign hypophosphatasia), the baby’s skeleton does not form properly in the mother’s womb. As a result, these infants often have short, bowed arms and legs and underdeveloped ribs (https://rarediseases.info.nih.gov/gard/6734/hypophosphatasia/resources/1). Unfortunately, some cases end in stillbirth, while other infants do not make it more than a few days due to respiratory failure. However, it is not uncommon for the skeletal abnormalities to improve as the child grows (http://rarediseases.org/rare-diseases/hypophosphatasia/). Although patients suffering from Infantile hypophosphatasia may not show any symptoms at birth, they can present themselves within the first six months. A common symptom is the failure to gain weight and grow at the expected rate (http://rarediseases.org/rare-diseases/hypophosphatasia/). Young children with the disease often have high levels of calcium in the blood (hypercalcemia), which can lead to frequent vomiting and kidney problems. These symptoms can be life-threatening in certain cases (https://rarediseases.info.nih.gov/gard/6734/hypophosphatasia/resources/1). The mildest form of hypophosphatasia is called odontohypophosphatasia. The disease only affects the teeth, and patients do not exhibit any of the other severe symptoms.

Name	Description
Bone pain	Bone pain
Early loss of deciduous teeth	Early loss of deciduous (baby) teeth
Bone malformations	Bone malformations

A diagnosis of hypophosphatasia is based upon characteristic signs and symptoms, a thorough clinical evaluation, a detailed patient history, and a variety of laboratory tests including x-ray studies (http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=162&Disease_Disease_Search_diseaseGroup=hypophosphatasia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Hypophosphatasia&title=Hypophosphatasia&search=Disease_Search_Simple). Unfortunately, many patients face a huge delay in diagnosis because some physicians are not familiar with this rare disease. When the disease is suspected based on physical symptoms, the patient may be tested to measure the activity of alkaline phosphatase in blood (http://rarediseases.org/rare-diseases/hypophosphatasia/). This is the enzyme that plays an important role in the mineralization of bones. A diagnosis of the disease can be further proven by measuring the serum level of vitamin B6, since the concentration of this molecule will be elevated in patients suffering from hypophosphatasia (http://rarediseases.org/rare-diseases/hypophosphatasia/). Finally, molecular genetic testing can be used to specifically investigate the ALPL gene which is a known cause of the disease. However, this process is very expensive and can only be performed in certain medical centres.

Diagnostic tests of Hypophosphatasia has not been added yet

Currently, here is no cure for hypophosphatasia and no proven medical therapy, so treatment is mainly directed towards preventing or managing the complications or symptoms (https://rarediseases.info.nih.gov/gard/6734/hypophosphatasia/resources/1). Although there are no cures officially approved by the Food and Drug Administration (FDA) for the treatment of hypophosphatasia, there are some medications being investigated. For example, it has been revealed that dietary phosphate restriction could be helpful in the management of hypophosphatasia (http://rarediseases.org/rare-diseases/hypophosphatasia/). Since hypophosphatasia mainly affects the skeletal system, non-steroidal anti-inflammatory drugs (NSAIDs) may be given to ease joint pain. Furthermore, regular dental care is important to prolong the lifespan of teeth (https://rarediseases.info.nih.gov/gard/6734/hypophosphatasia/resources/1). For patients who suffer from frequent fractures of long bones in the arms and legs, a procedure called “rodding” can help to prevent further damage. An orthopedic surgeon will place a metal rod through the center opening of a bone to reinforce it (http://rarediseases.org/rare-diseases/hypophosphatasia/).

Depending on the time of diagnosis, the prognosis of the disease can be variable for different patients. Severe cases of hypophosphatasia in infants are often lethal. Many children die within the first few days from respiratory complications due to chest deformations. However, life expectancy usually is not affected in adult cases of the disease and odontohypophosphatasia (http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=162&Disease_Disease_Search_diseaseGroup=hypophosphatasia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Hypophosphatasia&title=Hypophosphatasia&search=Disease_Search_Simple).

Tips or Suggestions of Hypophosphatasia has not been added yet.

References of Hypophosphatasia has not been added yet.