Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.

Journal: Orphanet journal of rare diseases
PMID: 35241128

Abstract

BACKGROUND: Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline phosphatase (ALP) threshold levels to identify adults with variants in ALPL among individuals with persistently low ALP levels and second, to determine the value of also including its substrates (serum pyridoxal-5'-phosphate-PLP-and urinary phosphoetanolamine-PEA) for this purpose in order to create a biochemical algorithm that could facilitate the diagnostic work-up of HPP.

Authors

  • C Tornero
    Department of Rheumatology, La Paz University Hospital, IdiPaz, Paseo de La Castellana, 261, 28046, Madrid, Spain. carolina.tornero@salud.madrid.org.
  • V Navarro-Compán
    Department of Rheumatology, La Paz University Hospital, IdiPaz, Paseo de La Castellana, 261, 28046, Madrid, Spain.
  • A Buño
    Department of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain.
  • K E Heath
    Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, La Paz University Hospital, Madrid, Spain.
  • M Díaz-Almirón
    Department of Biostatistics, La Paz University Hospital, Madrid, Spain.
  • A Balsa
    Department of Rheumatology, La Paz University Hospital, IdiPaz, Paseo de La Castellana, 261, 28046, Madrid, Spain.
  • J A Tenorio
    Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.
  • J Quer
    Masters in Telecommunications and Big Data, Telecommunications Engineering Degree, ICAI, Madrid, Spain.
  • P Aguado
    Department of Rheumatology, La Paz University Hospital, IdiPaz, Paseo de La Castellana, 261, 28046, Madrid, Spain.

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