Hypophosphatasia – Odontohypophosphotasia

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Odonto-HPP is caused by a problem in a gene known as ALPL which also causes hypophosphatasia.  

The true prevalence of odonto-HPP is unknown. However, there have been 150 cases reported to date but it is speculated that odonto-HPP Is the most frequent form of HPP.  

Odonto-HPP begins to manifest during adulthood and the signs and symptoms are: 

• Premature exfoliation of fully rooted primary teeth  
• Short tooth roots 
• Premature loss of primary and secondary teeth  
• Decreased alveolar bone 
• Expanded root chamber 

Odonto-HPP can be diagnosed using molecular genetic testing. It can also be diagnosed using samples of blood to look for hypercalcinaemia. 

Dental complications associated with odonto-HPP are managed with the appropriated surgery or possibly dental implantation.

Different forms of hypophosphatasia can either have autosomal recessive or autosomal dominant inheritance patterns. Humans are made up of DNA and the DNA is made up of chromosomes. Genes are sections of DNA which provide instructions to produce a protein that has a specific function. When there is an issue with a particular gene it causes the protein to be made incorrectly leading to disease. Humans inherit chromosomes from both their mother and father in the forms of eggs and sperm and these chromosomes determine the child’s characteristics. An inherited autosomal recessive disease is a disease that a child will inherit from their parents. Every human has two genes needed to make a functioning TNSALP and when both of the genes are not working odonto-HPP will develop. For a child to develop odonto-HPP they will need to inherit one non-working gene from each parent. The parents do not necessarily need to be diagnosed with odonto-HPP to pass it on, they can also be carriers. a carrier is someone who possess’ one non-working gene but does not have the disease because the other gene is working correctly.  

In the event that both of the parents are carriers of odonto-HPP. There is a: 

• 25% chance that one of the children will be unaffected by odonto-HPP will not be a carrier. 
• 25% chance that the child will inherit odonto-HPP. 
• 50% chance that the child will be unaffected by odonto-HPP and will be a carrier.     

In autosomal dominant inheritance patterns, we inherit particular chromosomes from the egg from the mother and sperm from the father. Every human has two genes that are needed in order to make the protein TNSALP. In an autosomal dominant disorder, a child only needs to inherit one of the non-working ALPL gene in order for the child to inherit it.  

When one parent has odonto-HPP, the chance of the baby getting odonto-HPP in each pregnancy is as follows: 

• 50% unaffected if they receive two working genes 
• 50% affected if they receive at least one fault gene.

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This information about metabolic diseases is provided by Metabolic Support UK and is intended for educational purposes only. It should not be used for diagnostic or treatment purposes.

Should you require more detailed information please contact Metabolic Support UK by email (contact@metabolicsupport.org) or by telephone ( 0800 652 3181). For specific medical information regarding a disorder or individual please contact your GP or Paediatrician. Metabolic Support UK accepts no responsibility for any errors or omissions nor does Metabolic Support UK assume any liability of any kind for the content of any information contained within this summary or any use that you may make of it.