Hypophosphatasia is a lifelong disease caused by loss-of-function mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP).1,4-6
Low alkaline phosphatase activity is the biological hallmark of hypophosphatasia.1,4
In hypophosphatasia, low alkaline phosphatase ruins bones, bodies, and lives.1,7-12
In addition to its role in bone mineralization, alkaline phosphatase dephosphorylates PLP (vitamin B6) into pyridoxal (PL), allowing it to cross the plasma membrane into the central nervous system (CNS). Within the CNS, PL is rephosphorylated into PLP. Intracellular PLP is involved in neurotransmitter synthesis (eg, gamma aminobutyric acid [GABA], dopamine, serotonin).1,19
In patients with hypophosphatasia, PLP deficiency in the CNS can cause fatal vitamin B6–responsive seizures.1,4,5
Prominent clinical symptoms of hypophosphatasia
Hypophosphatasia is often misdiagnosed, because the signs and symptoms can overlap with those of other disorders.1,14
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