A case report of unsuccessful enzyme replacement therapy in perinatal hypophosphatasia: impact of comorbid tetralogy of Fallot, prematurity, and novel variants

Abstract Hypophosphatasia (HPP) is a rare inborn error of metabolism characterized by defective bone mineralization due to alkaline phosphatase (ALP) deficiency encoded by the gene ALPL (Orphanet J Rare Dis 2:40, 2007), (Am J Med 22:730-746, 1957). The current treatment for HPP is enzyme replacement...

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Bibliographic Details
Published in:Journal of Rare Diseases
Main Authors: Tram Le, Bridget Fitzgerald, Michael Chomat, Jamie Sinton
Format: Article
Language:English
Published: Springer 2025-09-01
Subjects:
Hypophosphatasia
Metabolic disorder
Bone mineralization
Alkaline phosphatase
Asfotase alfa
Perinatal onset hypophosphatasia
Online Access:https://doi.org/10.1007/s44162-025-00120-y

Internet

https://doi.org/10.1007/s44162-025-00120-y

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