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Clinical snapshot

In a natural history study of patients ≤5 years of age with hypophosphatasia (HPP)1:

61% (19/31) of patients with hypophosphatasia had craniosynostosis
Data from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients with severe perinatal- and infantile-onset hypophosphatasia ≤5 years of age.1

Neurologic manifestations are among the most critical for patients with hypophosphatasia.2-5

In hypophosphatasia, skeletal deformities may include craniosynostosis, which can lead to2,3

Increased intracranial pressure
Intracranial hemorrhage
Optic nerve damage
Multiple cranial surgeries

Vitamin B6–responsive seizures can predict a poor outcome.2,5

In addition to its role in bone mineralization, alkaline phosphatase (ALP) dephosphorylates pyridoxal 5’-phosphate (PLP, or 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).2,6
In patients with hypophosphatasia, PLP deficiency in the CNS can cause fatal vitamin B6–responsive seizures2,7,8

In infants with hypophosphatasia, vitamin B6–responsive seizures often lead to a fatal outcome.1,2,5

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