Can hypophosphatasia (HPP) occur before birth?
It certainly can, and that’s why it’s important to get tested if you’re experiencing symptoms of HPP.
Genetic testing can help identify whether you or your loved ones carry the gene for HPP. However, genetic testing is not necessary to diagnose HPP.
Autosomal recessive inheritance means a child needs to inherit two copies of the mutated ALPL gene—one from each parent—in order to have HPP.
When two carriers of an autosomal recessive condition have
children, each child has a:
Chance of being affected
Chance of being an unaffected carrier, like each parent
Chance of being unaffected and not a carrier
HPP can also be passed down by autosomal dominant inheritance, in which a child only needs to inherit one copy of a mutated gene to cause HPP.
When one carrier of an autosomal dominant condition has children,
each child has a:
Chance of being affected
Chance of being unaffected
Early Signs in Infants.
This form of HPP typically appears 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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