HYPOPHOSPHATASIA (HPP) IN CHILDREN
Does my child have HPP?
It certainly can. HPP can occur at any age, which is why it’s important to talk to your doctor if you’re experiencing symptoms of HPP. Genetic testing can help identify whether you or your loved ones carry the gene for HPP. While genetic testing may help confirm a diagnosis, it is not necessary in order to diagnose HPP.
HPP can be inherited in either an autosomal recessive or an
autosomal dominant pattern.
Autosomal means the genetic change
is located on a gene that does not determine the sex of the child.
Autosomal recessive inheritance means a child needs to inherit two copies of the altered ALPL gene—one from each parent—in order to have HPP. HPP can also be passed down by autosomal dominant inheritance, in which a child only needs to inherit one copy of a changed gene to cause HPP.
When two carriers of an autosomal recessive condition have children, each child has a:
In autosomal dominant inheritance, a child only needs to inherit
one copy of the
changed gene to
cause HPP. In this case, the child inherits a normal
ALPL gene from one parent and a mutated
ALPL gene from the other. In this case, each child has a:
The doctors explained to me that there is a fifty percent chance that any baby I was to have would have hypophosphatasia as well.”
LIESL (SECOND FROM RIGHT), LIVING WITH HPP,
PICTURED WITH HER FAMILY
This form of HPP typically shows in infants before 6 months of age. Development may seem normal, but an issue with feeding or inadequate weight gain, as well as seizures, may be signs.
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