Severe perinatal hypophosphatasia case with a novel mutation


YAZICI H. , CANDA E. , Ucar S. K. , ÇOKER M.

ARCHIVOS ARGENTINOS DE PEDIATRIA, vol.120, 2022 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 120
  • Publication Date: 2022
  • Doi Number: 10.5546/aap.2022.eng.e21
  • Title of Journal : ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Keywords: hypophosphatasia, ALPL gene, asfotase alfa, enzyme replacement therapy

Abstract

Hypophosphatasia (HPP) is a rare inherited disorder caused by mutations in the ALPL gene. Mineralization defect in bones and teeth, abnormal respiratory function, seizures, hypotonia, bone pain, and nephrocalcinosis can be observed. Clinical forms are usually recognized based on age at diagnosis and severity of features.