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Infant Case

Fatal outcome in a male infant with hypophosphatasia (HPP)1

An infant with seizures and other systemic manifestations of hypophosphatasia dies before 1 year of age.

Historically, hypophosphatasia in infants has resulted in premature death.2

Based on a published case study: Demirbilek et al, J Clin Res Pediatr Endocrinol, 2012.

aNormal ALP reference interval used by the laboratory in this case study was 150-240 IU/L. Please note that reference intervals can vary among laboratories.

bNormal PEA reference interval used by the laboratory in this case study was 0-10 μmol/L. Please note that reference intervals can vary among laboratories.

cNormal calcium reference interval used by the laboratory in this case study was 8.5-10.5 mg/dL. Please note that reference intervals can vary among laboratories.

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References:
  1. Demirbilek H, Alanay Y, Alikasifoglu A, et al. Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report. J Clin Res Pediatr Endocrinol. 2012;4(1):34-38.
  2. Whyte MP, Leung E, Wilcox W, et al; for Study 011-10 Investigators. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at: 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting; May 3-6, 2014; Vancouver, BC.