Fast Five Quiz: Infantile Hypophosphatasia Management

Eric T. Rush, MD, FAAP, FACMG


July 29, 2022

Hypophosphatasia (HPP) is a rare inherited disease caused by loss-of-function variants in the ALPL gene, which is responsible for the production of the enzyme known as tissue nonspecific alkaline phosphatase (TNSALP). Low activity of TNSALP results in impaired mineralization of bones and teeth. According to Jandl and colleagues, > 400 distinct variants have been identified in patients with HPP.

HHP is classified into six clinical forms on the basis of the age of onset and severity of the disease. Perinatal and infantile HPP are the most severe forms of HPP. Perinatal HPP is apparent before or at the time of birth. Infantile HPP presents before 6 months of life. Both forms have a high mortality rate without treatment. Timely management can reduce the associated morbidity and mortality of patients with infantile HPP.

How much do you know about infantile HPP? Test your knowledge with this quick quiz.


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